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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Detalles Bibliográficos

Principais autores:	Julia S. Singer, Dorota Garczarczyk‐Asim, Miriam Michel, Thomas Müller, Lukas Hackl, Andreas R. Janecke
Formato:	Artigo
Idioma:	Inglês
Publicado:	Wiley 2026-07-01
Series:	Molecular Genetics & Genomic Medicine
Assuntos:	exon skipping heart transplantation left ventricular noncompaction cardiomyopathy neurodevelopmental disorder NONO splice‐site variant
Acceso en liña:	https://doi.org/10.1002/mgg3.70261
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