Xp11.22 duplications in four unrelated Chinese families: delineating the genotype-phenotype relationship for HSD17B10 and FGD1

BACKGROUND: Xp11.22 duplications have been reported to contribute to nonsyndromic intellectual disability (ID). The HUWE1 gene has been identified in all male Xp11.22 duplication patients and is associated with nonsyndromic ID. Currently, few Xp11.22 duplication cases have been reported in the Chine...

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Detalles Bibliográficos
Autores principales: Wang, Qingming, Chen, Pengliang, Liu, Jianxin, Lou, Jiwu, Liu, Yanhui, Yuan, Haiming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7206777/
https://www.ncbi.nlm.nih.gov/pubmed/32381089
http://dx.doi.org/10.1186/s12920-020-0728-8

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