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Journal articles on the topic 'Autosomal recessive'

Author: Grafiati
Published: 4 June 2021
Last updated: 6 February 2022

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1

Mahdi, Awad H. "Autosomal Recessive Osteopetrosis." Annals of Saudi Medicine 14, no. 2 (March 1994): 102–6. http://dx.doi.org/10.5144/0256-4947.1994.102.

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2

Boon, Camiel J. F., L. Ingeborgh van den Born, Linda Visser, Jan E. E. Keunen, Arthur A. B. Bergen, Judith C. Booij, Frans C. Riemslag, Ralph J. Florijn, and Mary J. van Schooneveld. "Autosomal Recessive Bestrophinopathy." Ophthalmology 120, no. 4 (April 2013): 809–20. http://dx.doi.org/10.1016/j.ophtha.2012.09.057.

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3

Altintaş, Ayşegül Koçak, Mehmet Akif Acar, Ilgaz Saĝdiç Yalvaç, Inci Koçak, Ayşe Nurözler, and Sunay Duman. "Autosomal recessive nanophthalmos." Acta Ophthalmologica Scandinavica 75, no. 3 (May 27, 2009): 325–28. http://dx.doi.org/10.1111/j.1600-0420.1997.tb00788.x.

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4

Bonifati, Vincenzo. "Autosomal recessive parkinsonism." Parkinsonism & Related Disorders 18 (January 2012): S4—S6. http://dx.doi.org/10.1016/s1353-8020(11)70004-9.

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5

Soutar, Anne K., and Rossitza P. Naoumova. "Autosomal Recessive Hypercholesterolemia." Seminars in Vascular Medicine 4, no. 03 (August 2004): 241–48. http://dx.doi.org/10.1055/s-2004-861491.

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6

D’Erasmo, Laura, Alessia Di Costanzo, and Marcello Arca. "Autosomal recessive hypercholesterolemia." Current Opinion in Lipidology 31, no. 2 (April 2020): 56–61. http://dx.doi.org/10.1097/mol.0000000000000664.

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7

Kalevar, Ananda, Judy J. Chen, H. Richard McDonald, and Arthur D. Fu. "AUTOSOMAL RECESSIVE BESTROPHINOPATHY." Retinal Cases & Brief Reports 12 (2018): S51—S54. http://dx.doi.org/10.1097/icb.0000000000000707.

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8

May, A. "Autosomal recessive disorders." BMJ 298, no. 6676 (March 25, 1989): 830. http://dx.doi.org/10.1136/bmj.298.6676.830-c.

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9

Baker, L. R., and T. C. Stamp. "Autosomal recessive hypophosphataemia." Archives of Disease in Childhood 64, no. 8 (August 1, 1989): 1209. http://dx.doi.org/10.1136/adc.64.8.1209-a.

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10

AL GAZASLI, L. I., and F. ABOU AL-ASAAD. "Autosomal recessive omodysplasia." Clinical Dysmorphology 4, no. 1 (January 1995): 52???56. http://dx.doi.org/10.1097/00019605-199501000-00007.

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11

D’Erasmo, Laura, Ilenia Minicocci, Antonio Nicolucci, Paolo Pintus, Janine E. Roeters Van Lennep, Luis Masana, Pedro Mata, et al. "Autosomal Recessive Hypercholesterolemia." Journal of the American College of Cardiology 71, no. 3 (January 2018): 279–88. http://dx.doi.org/10.1016/j.jacc.2017.11.028.

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12

Kajii, Tadashi, and Masato Tsukahara. "Autosomal recessive lymphedema?" Japanese Journal of Human Genetics 31, no. 1 (March 1986): 57. http://dx.doi.org/10.1007/bf01876803.

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13

Dunn, Andrew. "Autosomal/Recessive Hypocalciuric Hypercalcemia." Annals of Internal Medicine 126, no. 10 (May 15, 1997): 835. http://dx.doi.org/10.7326/0003-4819-126-10-199705150-00039.

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14

Van Peenen, H. J. "Autosomal/Recessive Hypocalciuric Hypercalcemia." Annals of Internal Medicine 126, no. 10 (May 15, 1997): 835. http://dx.doi.org/10.7326/0003-4819-126-10-199705150-00040.

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15

Saito, Masaaki, Mieko Maruyama, Ken Ikeuchi, Hiroshi Kondo, Atsushi Ishikawa, Tatsuhiko Yuasa, and Shoji Tsuji. "Autosomal recessive juvenile parkinsonism." Brain and Development 22 (September 2000): 115–17. http://dx.doi.org/10.1016/s0387-7604(00)00137-6.

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16

Tekedereli, Ibrahim, Emine Demiral, Ismail K. Gokce, Zeynep Esener, Emine Camtosun, and Aysehan Akinci. "Autosomal recessive cutis laxa." Clinical Dysmorphology 28, no. 2 (April 2019): 63–65. http://dx.doi.org/10.1097/mcd.0000000000000258.

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17

Isaacs, H., M. E. Badenhorst, and T. Whistler. "Autosomal recessive distal myopathy." Journal of Clinical Pathology 41, no. 2 (February 1, 1988): 188–94. http://dx.doi.org/10.1136/jcp.41.2.188.

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18

Barohn, R. J., R. G. Miller, and R. C. Griggs. "Autosomal recessive distal dystrophy." Neurology 41, no. 9 (September 1, 1991): 1365. http://dx.doi.org/10.1212/wnl.41.9.1365.

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19

Magee, A. C., H. C. Mulholland, and G. McGinnity. "Autosomal recessive CHARGE association." Pediatric Research 44, no. 3 (September 1998): 427. http://dx.doi.org/10.1203/00006450-199809000-00080.

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20

Bonifati, V. "1.1.2 AUTOSOMAL RECESSIVE PARKINSONISM." Parkinsonism & Related Disorders 18 (January 2012): S1. http://dx.doi.org/10.1016/s1353-8020(11)70075-x.

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21

Mathews, Katherine D., Adel K. Afifi, and James W. Hanson. "Autosomal Recessive Cerebellar Hypoplasia." Journal of Child Neurology 4, no. 3 (July 1989): 189–94. http://dx.doi.org/10.1177/088307388900400307.

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22

Hayashi, Takashi, Tadashi Kaju, and Eli Shahar. "Autosomal recessive startle disorder." Acta Paediatrica 82, no. 1 (January 1993): 124. http://dx.doi.org/10.1111/j.1651-2227.1993.tb12540.x.

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23

Haber, Richard M. "Autosomal Recessive Pachyonychia Congenita." Archives of Dermatology 122, no. 8 (August 1, 1986): 919. http://dx.doi.org/10.1001/archderm.1986.01660200091023.

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24

Haber, R. M. "Autosomal recessive pachyonychia congenita." Archives of Dermatology 122, no. 8 (August 1, 1986): 919–23. http://dx.doi.org/10.1001/archderm.122.8.919.

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25

Miltényi, Miklós, Andrew E. Czeizel, Lidia Balogh, and Zoltán Detre. "Autosomal recessive acrorenal syndrome." American Journal of Medical Genetics 43, no. 5 (July 15, 1992): 789–90. http://dx.doi.org/10.1002/ajmg.1320430506.

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26

Zlotogora, Joël, Cyril Legum, Judith Raz, Saul Merin, and David Benezra. "Autosomal recessive colobomatous microphthalmia." American Journal of Medical Genetics 49, no. 3 (February 1, 1994): 261–62. http://dx.doi.org/10.1002/ajmg.1320490302.

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27

Ramirez, Dorian, Edward J. Lammer, Caroline B. Johnson, and Cynthia D. Peterson. "Autosomal recessive frontotemporal pachygyria." American Journal of Medical Genetics 124A, no. 3 (2003): 231–38. http://dx.doi.org/10.1002/ajmg.a.20388.

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28

Fischer, Judith. "Autosomal Recessive Congenital Ichthyosis." Journal of Investigative Dermatology 129, no. 6 (June 2009): 1319–21. http://dx.doi.org/10.1038/jid.2009.57.

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29

Gualandi, F., A. Urciuolo, E. Martoni, P. Sabatelli, S. Squarzoni, M. Bovolenta, S. Messina, et al. "Autosomal recessive Bethlem myopathy." Neurology 73, no. 22 (November 30, 2009): 1883–91. http://dx.doi.org/10.1212/wnl.0b013e3181c3fd2a.

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30

Teebi, Ahmad S., Kamal K. Naguib, John M. Opitz, and James F. Reynolds. "Autosomal recessive nonsyndromal hydrocephalus." American Journal of Medical Genetics 31, no. 2 (October 1988): 467–70. http://dx.doi.org/10.1002/ajmg.1320310228.

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31

Teebi, Ahmad S. "Autosomal recessive Robinow syndrome." American Journal of Medical Genetics 35, no. 1 (January 1990): 64–68. http://dx.doi.org/10.1002/ajmg.1320350112.

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32

Sabatelli, M., T. Mignogna, G. Lippi, S. Servidei, G. Manfredi, E. Ricci, E. Bertini, M. Lo Monaco, and P. Tonali. "Autosomal recessive hypermyelinating neuropathy." Acta Neuropathologica 87, no. 4 (April 1, 1994): 337–42. http://dx.doi.org/10.1007/s004010050095.

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33

Rodríguez-Pazos, L., M. Ginarte, A. Vega, and J. Toribio. "Autosomal Recessive Congenital Ichthyosis." Actas Dermo-Sifiliográficas (English Edition) 104, no. 4 (May 2013): 270–84. http://dx.doi.org/10.1016/j.adengl.2011.11.021.

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34

Harris, Christopher M., Anthony Kriss, and Isabelle Russell-Eggitt. "Autosomal recessive cerebellar hypoplasia." Pediatric Neurology 9, no. 3 (May 1993): 247. http://dx.doi.org/10.1016/0887-8994(93)90096-u.

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35

Sabatelli, M., T. Mignogna, G. Lippi, S. Servidei, G. Manfredi, E. Ricci, E. Bertini, M. Lo Monaco, and P. Tonali. "Autosomal recessive hypermyelinating neuropathy." Acta Neuropathologica 87, no. 4 (April 1994): 337–42. http://dx.doi.org/10.1007/bf00313601.

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36

Angelini, Chloé, Marie Thibaud, Nathalie Aladjidi, Pierre Bessou, Sébastien Cabasson, Cindy Colson, Caroline Espil-Taris, et al. "Expanding the Spectrum of Neurological Manifestations in Cutis Laxa, Autosomal Recessive, Type IIIA." Neuropediatrics 51, no. 04 (March 6, 2020): 245–50. http://dx.doi.org/10.1055/s-0040-1701671.

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AbstractCutis laxa is a heterogeneous group of diseases, characterized by abundant and wrinkled skin and a variable degree of intellectual disability. Cutis laxa, autosomal recessive, type IIIA and autosomal dominant 3 syndromes are caused by autosomal recessive or de novo pathogenic variants in ALDH18A1. Autosomal recessive variants are known to lead to the most severe neurological phenotype, and very few patients have been described.We describe a 13-month-old patient with cutis laxa, autosomal recessive, type IIIA, with an extremely severe phenotype, including novel neurological findings. This description enlarges the neurological spectrum associated to cutis laxa, autosomal recessive, type IIIA, and provides an additional description of this syndrome.
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37

Van Peenen, H. J. "Autosomal/Recessive: (Familial Hypocalciuric Hypercalcemia)." Annals of Internal Medicine 125, no. 1 (July 1, 1996): 7. http://dx.doi.org/10.7326/0003-4819-125-1-199607010-00002.

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38

Liza, Mohapatra, Dash Gaurav, Mohanty Prasenjeet, Jena Swapna, and Behera Binodini. "Autosomal-Recessive Hyper-IgE syndrome." Indian Journal of Dermatology 63, no. 1 (2018): 79. http://dx.doi.org/10.4103/ijd.ijd_445_16.

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39

Hegab, Samiha M., and Samia A. Al-mutawa. "Congenital hereditary autosomal recessive alacrima." Ophthalmic Genetics 17, no. 1 (January 1996): 35–38. http://dx.doi.org/10.3109/13816819609057867.

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40

Руденская, Г. Е., В. А. Кадникова, А. Л. Чухрова, Т. В. Маркова, and О. П. Рыжкова. "Rare autosomal recessive spastic paraplegias." Nauchno-prakticheskii zhurnal «Medicinskaia genetika», no. 11() (November 29, 2019): 26–35. http://dx.doi.org/10.25557/2073-7998.2019.11.26-35.

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Актуальность. Наследственные спастические параплегии (НСП) - одна из наиболее гетерогенных групп наследственных нервных болезней, насчитывающая около 80 клинико-генетических форм (SPG) с хронологической нумерацией. Методы высокопроизводительного экзомного секвенирования (MPS) принципиально расширили возможности выделения новых SPG и практической ДНК-диагностики. В ФГБНУ МГНЦ проводится первое в России комплексное клинико-молекулярное исследование НСП на основе MPS и ряда дополнительных методов ДНК-анализа. Группа верифицированных случаев насчитывает 114 семей с 20 различными формами, включая редкие аутосомно-рецессивные (АР) формы, мало известные генетикам и неврологам. Цель: представить первые российские наблюдения редких АР форм: SPG5, SPG26, SPG35 и SPG39, связанных соответственно с генами CYP7B1, B4GALNT1, FA2H и PNPLA6, участвующими в разных звеньях липидного обмена. Методы. Первичная группа включала около 200 российских семей с предварительным клиническим диагнозом НСП или сходных болезней; основная группа: 114 семей с диагностированной формой SPG; материал статьи: 4 семьи. Использованы методы: клинико-генеалогический, кастомная MPS-панель «параплегии» (64 гена); секвенирование по Сэнгеру; мультиплексная-лигаза зависимая амплификация MLPA (выборочно); полноэкзомное секвенирование WES (выборочно); биоинформатический анализ. Результаты: подгруппа АР SPG включила 22 семьи/12 форм. Представленные 4 формы выявлены в единичных семьях. SPG5: подросток 17 лет в русской семье; начало в 15 лет, умеренный спастический парапарез, легкая сопутствующая атаксия. Генотип CYP7B1: ранее описанные мутации с.334С>T (p.Arg112Ter)/c.1190C>T (p.Pro397Leu) у больного и здоровой сестры 8 лет (доклиническая стадия), родители - гетерозиготные носители. SPG26: мальчик 13 лет в неинбредной русской семье; начало в раннем детстве, медленно прогрессирующий спастический парапарез, дизартрия, когнитивные и поведенческие нарушения, нормальная МРТ. Генотип B4GALNT1: новая мутация c.1514G>C (p.Arg505Pro) в гомозиготном состоянии у больного, в гетерозиготном - у родителей. Случай SPG26 - 14-й описанный в мире, гомозиготность по мутации, вызывающей очень редкую форму SPG, в неинбредной русской семье необычна. SPG35: мальчик 5 лет в этнически смешанной семье (мать русская, отец татарско-бурятского происхождения) из Сибири; начало в 4 года, быстро прогрессирующий спастический парапарез без других симптомов, нормальная МРТ. Генотип FA2H: ранее описанная мутация с.805С>T (p.Arg269Cys) и новая мутация c.106C>T (p.Leu36Phe). SPG39: мальчик 10 лет в русско-татарской семье; начало в 5 лет, умеренный спастический парапарез без других симптомов. Генотип PNPLA6: описанная ранее интронная мутация с.199-2A>T / новая мутация c.2033G>A (p.Gly678Asp), родители - гетерозиготные носители. Выводы. НСП у российских больных представлены широким спектром клинико-генетических форм, включая редкие АР SPG в неинбредных русских и в этнически смешанных семьях. Cлучаи SPG5, SPG26, SPG35 и SPG39 - первые российские описания. Из найденных в 4 генах 7 мутаций три ранее не описаны. MPS - метод выбора ДНК-диагностики болезней с выраженной генетической гетерогенностью, таких, как НСП. Objective: hereditary spastic paraplegias (HSP) are a heterogeneous group including about 80 forms: SPGs (Spastic Paraplegia Gene) numbered chronologically. Massive parallel sequencing MPS greatly improved possibilities of new SPGs disclosure and of practical DNA diagnostics. First Russian HSP complex investigation of HSP using MPS is being performed in FSBI PCMG. By now, the group of genetically diagnosed cases numbers 114 families with 20 different SPGs, including rare autosomal recessive forms poorly known to geneticists and neurologists. Aim: to present first Russian cases of rare autosomal recessive (AR) forms: SPG5, SPG26, SPG35, and SPG39. The genes, CYP7B1, B4GALNT1, FA2H, and FA2H correspondingly, are involved in lipid metabolism. Materials: initial group: about 200 Russian families with preliminary clinical diagnosis of HSP or alike disorders; index group: 114 SPG-confirmed families; paper material: the four families. Methods: clinical investigation, genealogical analysis; molecular methods: custom MPS-panel “paraplegias” (63 genes), Sanger sequencing, multiplex ligation-dependent probe amplification MLPA (selectively), whole-exome sequencing WES (selectively); bioinformatic analysis. Results. Subgroup of AR SPG included 22 families/12 forms. SPG5, 26, 35, 39 were detected in single families. SPG5: a 17-year-old youth in a Russian family; onset in 15 years, moderate spastic paraparesis, mild ataxia; CYP7B1 genotype: two earlier reported mutations .334С>T (p.Arg112Ter) и c.1190C>T (p.Pro397Leu) in the patient and in unaffected younger sister (preclinical stage), parents - heterozygous carries. SPG26: a 13-year old boy in a Russian non-consanguineous family; early-childhood onset, slowly progressing paraparesis, dysarthria, cognitive and behavioral impairment; B4GALNT1 genotype: novel homozygous mutation c.1514G>C (p.Arg505Pro) in the boy, heterozygosity in parents; homozygosity for a very rare gene (14th SPG26 world case) in a Russian non-consanguineous family is unusual. SPG35: a 5-year-old boy in a Sibirian ethnically mixed family (Russian mother, father of Tatar-Buryat ethnicity); onset in 4 years, rapidly progressing paraparesis with no other signs, normal MRI; FA2H genotype: reported earlier с.805С>T (p.Arg269Cys) / novel c.106C>T (p.Leu36Phe). SPG39: a 10-year-old boy in a Russian-Tatar family; onset in 5 years, slowly progressing paraparesis with no other signs; PNPLA6 genotype: reported earlier intronic с.199-2A>T novel c.2033G>A (p.Gly678Asp), parents - heterozygous carriers. Conclusions. HSP in Russian patients present a wide spectrum including rare AR SPG in non-consanguineous Russian families and in families of mixed ethnicity. Our SPG5, SPG26, SPG35 and SPG39 cases are first in Russia; of 7 mutations detected in the 4 genes 3 mutations were novel. MPS is method of choice in DNA diagnostics of heterogeneous disorders like HSP.
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41

Herman, T. E., and M. J. Siegel. "Infantile autosomal-recessive malignant osteopetrosis." Journal of Perinatology 27, no. 7 (June 26, 2007): 455–56. http://dx.doi.org/10.1038/sj.jp.7211743.

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42

Alsaleh, Q. A., and A. S. Teebi. "Autosomal recessive epidermolytic palmoplantar keratoderma." Journal of Medical Genetics 27, no. 8 (August 1, 1990): 519–22. http://dx.doi.org/10.1136/jmg.27.8.519.

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43

Teebi, A. S., K. K. Naguib, S. Al-Awadi, and Q. A. Al-Saleh. "New autosomal recessive faciodigitogenital syndrome." Journal of Medical Genetics 25, no. 6 (June 1, 1988): 400–406. http://dx.doi.org/10.1136/jmg.25.6.400.

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44

Goldstein, D. Yitzchak, and Michael Prystowsky. "Educational Case: Autosomal Recessive Inheritance." Academic Pathology 4 (January 1, 2017): 237428951769176. http://dx.doi.org/10.1177/2374289517691769.

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The following fictional case is intended as a learning tool within the Pathology Competencies for Medical Education (PCME), a set of national standards for teaching pathology. These are divided into three basic competencies: Disease Mechanisms and Processes, Organ System Pathology, and Diagnostic Medicine and Therapeutic Pathology. For additional information, and a full list of learning objectives for all three competencies, see http://journals.sagepub.com/doi/10.1177/2374289517715040 .
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45

Wu, R. M. "1.1.4 AUTOSOMAL RECESSIVE PARKINSON'S DISEASE." Parkinsonism & Related Disorders 18 (January 2012): S1. http://dx.doi.org/10.1016/s1353-8020(11)70077-3.

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46

Zerres, K., S. Rudnik-Schoneborn, C. Steinkamm, and G. Mucher. "Autosomal recessive polycystic kidney disease." Nephrology Dialysis Transplantation 11, supp6 (January 1, 1996): 29–33. http://dx.doi.org/10.1093/ndt/11.supp6.29.

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47

Harraway, J. R., J. M. Sheard, S. J. Soule, C. M. Florkowski, and P. M. George. "Autosomal recessive adult-onset hypophosphatasia." Pathology 37, no. 6 (December 2005): 563–65. http://dx.doi.org/10.1080/00313020500368329.

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48

Beighton, Peter, James Davidson, Lecia Durr, and Herman Hamersma. "Sclerosteosis - An autosomal recessive disorder." Clinical Genetics 11, no. 1 (April 23, 2008): 1–7. http://dx.doi.org/10.1111/j.1399-0004.1977.tb01269.x.

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49

Wichman, Alison, L. Matthew Frank, and Thaddeus E. Kelly. "Autosomal recessive congenital cerebellar hypoplasia." Clinical Genetics 27, no. 4 (June 28, 2008): 373–82. http://dx.doi.org/10.1111/j.1399-0004.1985.tb02279.x.

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Williams, Mary L. "Heterogeneity in Autosomal Recessive Ichthyosis." Archives of Dermatology 121, no. 4 (April 1, 1985): 477. http://dx.doi.org/10.1001/archderm.1985.01660040061013.

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