Article
Nabais Sa-de Vries syndrome in a Chinese infant associated with a novel SPOP mutation: A clinical study and genetic report.
Molecular genetics & genomic medicine - 1 Dec 2022
Hu Wenjing, Fang Hongjun, Peng Yu, Li Li, Liu Shulei, Liao Hongmei, Tang Jingwen, Yi Jurong, Liu Qingqing, Xu Li, Wu Liwen
Abstract excerpt
BACKGROUND: Nabais Sa-de Vries syndrome (NSDVS) is a newly identified neurodevelopmental disorder (NDD), characterized by mutations in the SPOP gene, which encodes the speckle-type BTB/POZ protein. It is divided into two disease subtypes, according to patient facial features, which could be related to altered SPOP protein function. Few studies have documented this syndrome and little is known about its...
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