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Article

An Extended Phenotype of PPP1R13L Cardiocutaneous Syndrome.

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

Coudert Alicia, Thevenon Julien, Testard Quentin, Satre Véronique, Harbuz Radu, Bouvagnet Patrice, Rabattu Pierre-Yves, Coutton Charles, Le Tanno Pauline

Abstract excerpt

Dilated cardiomyopathy (DCM) is a rare disease in children and a leading cause of heart failure. There are numerous causes of DCM including genetic causes leading to isolated or syndromic presentations, with a wide variety of implicated genes. Among them, PPP1R13L is associated with a recessive syndrome leading to cardiac anomalies with skin, teeth, and hair abnormalities. Fifteen patients have been described so...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39579152
DOI: 10.1002/ajmg.a.63932

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