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...

Descrizione completa

Dettagli Bibliografici

Autori principali:	Julia S. Singer, Dorota Garczarczyk‐Asim, Miriam Michel, Thomas Müller, Lukas Hackl, Andreas R. Janecke
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	Wiley 2026-07-01
Serie:	Molecular Genetics & Genomic Medicine
Soggetti:	exon skipping heart transplantation left ventricular noncompaction cardiomyopathy neurodevelopmental disorder NONO splice‐site variant
Accesso online:	https://doi.org/10.1002/mgg3.70261
Tags:	Aggiungi Tag Nessun Tag, puoi essere il primo ad aggiungerne!!