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Article

Variable phenotype of a null PPP1R13L allele in children with dilated cardiomyopathy.

American journal of medical genetics. Part A - 1 Jan 2024

Tulbah Sahar, Alruwaili Nadiah, Alhashem Amal, Aljohany Arwa, Alhadeq Faten, Brotons Dimpna C Albert, Alwadai Abdullah, Al-Hassnan Zuhair N

Abstract excerpt

Childhood-onset cardiomyopathy is a genetically heterogeneous group of conditions with several genes implicated. Recently, biallelic loss-of-function variants in PPP1R13L have been reported in association with a syndromic form of dilated cardiomyopathy (DCM). In addition, affected children manifest skin and hair abnormalities, cleft lip and palate (CLP), and eye findings. Here, we delineate the condition further...

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Identifiers

PMID: 37698259
DOI: 10.1002/ajmg.a.63402

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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