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2. ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder. Williams LB; Javed A; Sabri A; Morgan DJ; Huff CD; Grigg JR; Heng XT; Khng AJ; Hollink IHIM; Morrison MA; Owen LA; Anderson K; Kinard K; Greenlees R; Novacic D; Nida Sen H; Zein WM; Rodgers GM; Vitale AT; Haider NB; Hillmer AM; Ng PC; Shankaracharya ; Cheng A; Zheng L; Gillies MC; van Slegtenhorst M; van Hagen PM; Missotten TOAR; Farley GL; Polo M; Malatack J; Curtin J; Martin F; Arbuckle S; Alexander SI; Chircop M; Davila S; Digre KB; Jamieson RV; DeAngelis MM Genet Med; 2019 Sep; 21(9):2103-2115. PubMed ID: 30967659 [TBL] [Abstract][Full Text] [Related]
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10. Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy. Taylor RL; Arno G; Poulter JA; Khan KN; Morarji J; Hull S; Pontikos N; Rueda Martin A; Smith KR; Ali M; Toomes C; McKibbin M; Clayton-Smith J; Grunewald S; Michaelides M; Moore AT; Hardcastle AJ; Inglehearn CF; Webster AR; Black GC; JAMA Ophthalmol; 2017 Apr; 135(4):339-347. PubMed ID: 28253385 [TBL] [Abstract][Full Text] [Related]
11. A novel, homozygous nonsense variant of the CDHR1 gene in a Chinese family causes autosomal recessive retinal dystrophy by NGS-based genetic diagnosis. Fu J; Ma L; Cheng J; Yang L; Wei C; Fu S; Lv H; Chen R; Fu J J Cell Mol Med; 2018 Nov; 22(11):5662-5669. PubMed ID: 30160356 [TBL] [Abstract][Full Text] [Related]
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