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

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

Abstract 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 t...

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Bibliographic Details
Main Authors: Qingming Wang, Pengliang Chen, Jianxin Liu, Jiwu Lou, Yanhui Liu, Haiming Yuan
Format: Article
Language:English
Published: BMC 2020-05-01
Series:BMC Medical Genomics
Subjects:
Xp11.22 duplication
Intellectual disability
HUWE1
HSD17B10
FGD1
Online Access:http://link.springer.com/article/10.1186/s12920-020-0728-8

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