Genetic of preimplantation diagnosis of dysmorphic facial features and intellectual developmental disorder (CHDFIDD) without congenital heart defects

Abstract Background Cyclin‐dependent kinase 13 plays a critical role in the regulation of gene transcription. Recent evidence suggests that heterozygous variants in CDK13 are associated with a syndromic form of mental deficiency and developmental delay, which is inherited in an autosomal dominant ma...

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Principais autores:	Xiangrong Cui, Xueqing Wu, Hongwei Wang, Sanyuan Zhang, Wei Wang, Xuan Jing
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Wiley 2022-02-01
coleção:	Molecular Genetics & Genomic Medicine
Assuntos:	CDK13 gene CHDFIDD novel variant PGT‐M whole‐exome sequencing
Acesso em linha:	https://doi.org/10.1002/mgg3.1863
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