Article
White-Sutton syndrome and congenital heart disease: case report and literature review.
BMC pediatrics - 4 Apr 2023
Duan Jing, Ye Yuanzhen, Liao Jianxiang, Chen Li, Zhao Xia, Liu Chao, Wen Jialun
Abstract excerpt
BACKGROUND: White-Sutton syndrome is an autosomal dominant neurodevelopmental disorder caused by heterozygous mutation in POGZ (Pogo Transposable Element Derived with ZNF Domain). This syndrome is characterized by delayed psychomotor development apparent in infancy and abnormal facial features. To date, 80 cases have been reported in the literature; however, the phenotypic characterizations remain incomplete....
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