Article
Genetic of preimplantation diagnosis of dysmorphic facial features and intellectual developmental disorder (CHDFIDD) without congenital heart defects.
Molecular genetics & genomic medicine - 1 Feb 2022
Cui Xiangrong, Wu Xueqing, Wang Hongwei, Zhang Sanyuan, Wang Wei, Jing Xuan
Abstract excerpt
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 manner. METHODS: A mentally retarded mother (33-year-old) and son (10-year-old boy) in our hospital with CDK13 variant (c.2149...
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