Article
Clinical and genetic analysis of a rare syndrome associated with neoteny.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2018
Walker Richard F, Ciotlos Serban, Mao Qing, Chin Robert, Drmanac Snezana, Barua Nina, Agarwal Misha R, Zhang Rebecca Yu, Li Zhenyu, Wu Michelle Ka Yan, Sun Kevin, Lee Katharine, Nguyen Staci, Liu Jia Sophie, Carnevali Paolo, Drmanac Radoje, Peters Brock A
Abstract excerpt
PurposeWe describe a novel syndrome in seven female patients with extreme developmental delay and neoteny.MethodsAll patients in this study were female, aged 4 to 23 years, were well below the fifth percentile in height and weight, had failed to develop sexually, and lacked the use of language. Karyotype and array chromosome genomic hybridization analysis failed to identify large-scale structural variations. To...
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