Case Report of Neonatal Sotos Syndrome with a New Missense Mutation in the <i>NSD1</i> Gene and Literature Analysis in the Chinese Han Population

Case Report of Neonatal Sotos Syndrome with a New Missense Mutation in the <i>NSD1</i> Gene and Literature Analysis in the Chinese Han Population

Currently, no consensus exists regarding Sotos syndrome in the Chinese population. Here, we present a case of neonatal Sotos syndrome, followed by a retrospective analysis of five cases of neonatal Sotos syndrome, reported in China. The study subject was a twin premature infant, heavier than gestati...

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Bibliographic Details
Main Authors: Hui-Ying Jin, Hai-Feng Li, Jia-Lu Xu, Wang Hui, Wen-Cong Ruan, Cheng-Cheng Lv, Ren-Ai Xu, Shu Qiang
Format: Article
Language:English
Published: MDPI AG 2022-07-01
Series:Medicina
Subjects:
neonatal Sotos syndrome
<i>NSD1</i>
missense variation
c.5000C>A
chr5:176687023
Online Access:https://www.mdpi.com/1648-9144/58/7/968

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https://www.mdpi.com/1648-9144/58/7/968

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