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Article

Sequence variation in PPP1R13L results in a novel form of cardio‐cutaneous syndrome

9 Jan 2017

Abstract excerpt

Dilated cardiomyopathy (DCM) is a life‐threatening disorder whose genetic basis is heterogeneous and mostly unknown. Five Arab Christian infants, aged 4–30 months from four families, were diagnosed with DCM associated with mild skin, teeth, and hair abnormalities. All passed away before age 3. A homozygous sequence variation creating a premature stop codon at PPP1R13L encoding the iASPP protein was identified in...

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PMID: 28069640
DOI: 10.15252/emmm.201606523

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