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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...

Whakaahuatanga katoa

I tiakina i:
Ngā kaituhi matua: Julia S. Singer, Dorota Garczarczyk‐Asim, Miriam Michel, Thomas Müller, Lukas Hackl, Andreas R. Janecke
Hōputu: Artigo
Reo:Inglês
I whakaputaina: Wiley 2026-07-01
Rangatū:Molecular Genetics & Genomic Medicine
Ngā marau:
exon skipping
heart transplantation
left ventricular noncompaction cardiomyopathy
neurodevelopmental disorder
NONO
splice‐site variant
Urunga tuihono:https://doi.org/10.1002/mgg3.70261
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