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Extending the phenotype of DeSanto-Shinawi syndrome: A case report and literature review

Ho, S; Luk, HM; Lo, IFM

Lo, IFM (通讯作者),Dept Hlth, Clin Genet Serv, Hong Kong, Peoples R China.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2022; 188 (3): 984

Abstract

DeSanto-Shinawi syndrome (DESSH, OMIM #616708) is a rare autosomal dominant neurodevelopmental disorder caused by loss-of-function variants in the WAC......

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