Case Report of Neonatal Sotos Syndrome with a New Missense Mutation in the NSD1 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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Detalles Bibliográficos
Autores principales: Jin, Hui-Ying, Li, Hai-Feng, Xu, Jia-Lu, Hui, Wang, Ruan, Wen-Cong, Lv, Cheng-Cheng, Xu, Ren-Ai, Qiang, Shu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9315494/
https://www.ncbi.nlm.nih.gov/pubmed/35888687
http://dx.doi.org/10.3390/medicina58070968

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