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Article

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

Medicina (Kaunas, Lithuania) - 21 Jul 2022

Jin Hui-Ying, Li Hai-Feng, Xu Jia-Lu, Hui Wang, Ruan Wen-Cong, Lv Cheng-Cheng, Xu Ren-Ai, Qiang Shu

Abstract excerpt

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 gestational age, with characteristic facial features, limb shaking, and hypertonia. Transient hypoglycemia, abnormal...

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Identifiers

PMID: 35888687
DOI: 10.3390/medicina58070968
PMCID: PMC9315494

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