Article

ANKRD17 Gene Heterozygous Variant Leads to Chopra-Amiel-Gordon Syndrome: A Case Study and Literature Review

2026-04-07

Abstract excerpt

<title>Abstract</title> <p> Chopra-Amiel-Gordon syndrome (CAGS, MIM: 619504), also known as <italic>ANKRD17</italic> gene-related neurodevelopmental syndrome, is a rare autosomal dominant inherited disease. It is caused by a heterozygous loss-of-function pathogenic variant in the ANKRD17 gene, encoding an ankyrin repeat domain-containing protein. Primary clinical features of this disease include growth and dev...

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Literature Corpus work: d33efa38-ae25-56fd-9f53-2b976eef917e
DOI: 10.21203/rs.3.rs-9308598/v1

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