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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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:BMC Med Genomics
Egile Nagusiak: Wang, Qingming, Chen, Pengliang, Liu, Jianxin, Lou, Jiwu, Liu, Yanhui, Yuan, Haiming
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BioMed Central 2020
Gaiak:
Case Report
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC7206777/
https://ncbi.nlm.nih.gov/pubmed/32381089
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-020-0728-8
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