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Article

A Novel Missense Mutation of the ABL1 Gene in a Child With Congenital Heart Defects and Skeletal Malformations Syndrome.

American journal of medical genetics. Part A - 1 Jun 2025

Chen Ting-Yi, Chen Yi, Tang Lan-Fang

Abstract excerpt

Congenital heart defects and skeletal malformations syndrome (CHDSKM) is a rare autosomal dominant genetic disorder characterized by specific clinical features, including dysmorphic facial traits, congenital heart defects, skeletal abnormalities, joint issues, and failure to thrive. The novelty of this case lies in the identification of a novel mutation in the ABL1 gene, expanding the genetic spectrum associated...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 39887622
DOI: 10.1002/ajmg.a.63996

Genes

ABL1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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