Heart Transplant for Noncompaction Cardiomyopathy in NONO‐Related Syndromic Intellectual Disability

ABSTRACT Introduction Loss‐of‐function variants in NONO cause an X‐linked syndromic neurodevelopmental disorder (MRXS34), characterized by developmental delay, corpus callosum abnormalities, dysmorphic features, feeding difficulties, and congenital heart disease, most commonly left ventricular nonco...

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Podrobná bibliografie

Hlavní autoři:	Julia S. Singer, Dorota Garczarczyk‐Asim, Miriam Michel, Thomas Müller, Lukas Hackl, Andreas R. Janecke
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Wiley 2026-07-01
Edice:	Molecular Genetics & Genomic Medicine
Témata:	exon skipping heart transplantation left ventricular noncompaction cardiomyopathy neurodevelopmental disorder NONO splice‐site variant
On-line přístup:	https://doi.org/10.1002/mgg3.70261
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