Xp22.31 copy number variations in 87 fetuses: refined genotype–phenotype correlations by prenatal and postnatal follow-up

Abstract Background Xp22.31 deletion and duplication have been described in various studies, but different laboratories interpret pathogenicity differently. Objectives Our study aimed to refine the genotype–phenotype associations between Xp22.31 copy number variants in fetuses, with the aim of provi...

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Bibliografiska uppgifter

Huvudupphov:	Huamei Hu, Yulin Huang, Renke Hou, Huanhuan Xu, Yalan Liu, Xueqian Liao, Juchun Xu, Lupin Jiang, Dan Wang
Materialtyp:	Artigo
Språk:	Inglês
Utgiven:	BMC 2023-04-01
Serie:	BMC Medical Genomics
Ämnen:	Xp22.31 deletion Xp22.31 duplication X-linked ichthyosis Genetic counseling
Länkar:	https://doi.org/10.1186/s12920-023-01493-z
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