| 1 | CDIDHH, MCDR1, PRDM13
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| Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation.
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| Coolen M, Altin N, Rajamani K, Pereira E, Siquier-Pernet K, Puig Lombardi E, Moreno N, Barcia G, Yvert M, Laquerrière A, Pouliet A, Nitschké P, Boddaert N, Rausell A, Razavi F, Afenjar A, Billette de Villemeur T, Al-Maawali A, Al-Thihli K, Baptista J, Beleza-Meireles A, Garel C, Legendre M, Gelot A, Burglen L, Moutton S, Cantagrel V.
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| Am J Hum Genet. May 5;109(5):909-927. doi: 10.1016/j.ajhg.2022.03.010. Epub 2022 Apr 6. 2022
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| 2 | MCDR1, PRDM13
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| A unique PRDM13-associated variant in a Georgian Jewish family with probable North Carolina macular dystrophy and the possible contribution of a unique CFH variant.
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| Namburi P, Khateb S, Meyer S, Bentovim T, Ratnapriya R, Khramushin A, Swaroop A, Schueler-Furman O, Banin E, Sharon D.
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| Mol Vis Apr 16;26:299-310. eCollection 2020 2020
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| 3 | MCDR1
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| A new locus for dominant drusen and macular degeneration maps to chromosome 6q14.
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| Kniazeva M, Traboulsi EI, Yu Z, Stefko ST, Gorin MB, Shugart YY, O'Connell JR, Blaschak CJ, Cutting G, Han M, Zhang K.
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| Am J Ophthalmol 130(2):197-202. 2000
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| 4 | IMPG1, MCDR1, PBCRA1, STGD3
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| Assessment of the interphotoreceptor matrix proteoglycan-1 (IMPG1) gene localised to 6q13-q15 in autosomal dominant Stargardt-like disease (ADSTGD), progressive bifocal chorioretinal atrophy (PBCRA), and North Carolina macular dystrophy (MCDR1).
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| Gehrig A, et al.
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| J Med Genet 35 : 641-645. 1998
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| 5 | MCDR1
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| An ancestral core haplotype defines the critical region harbouring the North Carolina macular dystrophy gene (MCDR1).
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| Sauer CG, Schworm HD, Ulbig M, Blankenagel A, Rohrschneider K, Pauleikhoff D, Grimm T, Weber BH.
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| J Med Genet 34(12):961-6. 1997
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| 6 | MCDR1
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| Genetic analysis of additional families with North Carolina macular dystrophy (MCDR1).
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| Small KW, et al.
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| Am J Hum Genet 53 : 1079. 1993
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| 7 | MCDR1
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| North Carolina macular dystrophy is assigned to chromosome 6.
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| Small KW, et al.
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| Genomics 13 : 681-685. 1992
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| 8 | MCDR1
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| Exclusion map of North Carolina macular dystrophy using RFLPs and microsatellites.
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| Small KW, et al.
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| Genomics 11 : 763-766. 1991
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