首页 正文

A case of Chopra-Amiel-Gordon syndrome with a novel heterozygous variant in the ANKRD17 gene: A case report

{{output}}
Chopra-Amiel-Gordon syndrome (OMIM: 619504) is an autosomal dominant neurodevelopmental disorder characterized by developmental delay, intellectual disability, speech delay, epilepsy, dysmorphic craniofacial features, ophthalmological abnormalities, and recurr... ...