Novel variants and phenotypic heterogeneity in a cohort of 11 Chinese children with Wiedemann-Steiner syndrome

Objective: Wiedemann-Steiner syndrome (WSS) is a rare autosomal dominant disorder caused by deleterious heterozygous variants of the KMT2A gene. This study aims to describe the phenotypic and genotypic features of Chinese WSS patients, and assess therapeutic effects of recombinant human growth hormo...

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Detalles Bibliográficos
Autores principales: Lin, Yunting, Chen, Xiaohong, Xie, Bobo, Guan, Zhihong, Chen, Xiaodan, Li, Xiuzhen, Yi, Peng, Du, Rong, Mei, Huifen, Liu, Li, Zhang, Wen, Zeng, Chunhua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10070943/
https://www.ncbi.nlm.nih.gov/pubmed/37025457
http://dx.doi.org/10.3389/fgene.2023.1085210

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10070943/
https://www.ncbi.nlm.nih.gov/pubmed/37025457
http://dx.doi.org/10.3389/fgene.2023.1085210

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