Article
Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion.
Clinical genetics - 1 Apr 2018
Chiu A T G, Pei S L C, Mak C C Y, Leung G K C, Yu M H C, Lee S L, Vreeburg M, Pfundt R, van der Burgt I, Kleefstra T, Frederic T M-T, Nambot S, Faivre L, Bruel A-L, Rossi M, Isidor B, Küry S, Cogne B, Besnard T, Willems M, Reijnders M R F, Chung B H Y
Abstract excerpt
Okur-Chung syndrome is a neurodevelopmental condition attributed to germline CSNK2A1 pathogenic missense variants. We present 8 unreported subjects with the above syndrome, who have recognizable dysmorphism, varying degrees of developmental delay and multisystem involvement. Together with 6 previously reported cases, we present a case series of 7 female and 7 male subjects, highlighting the recognizable facial...
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