A Complex Neurodevelopmental Phenotype Resembling a Chromatinopathy With Concurrent 7p Duplication and 10p Deletion Involving ZMYND11: A Case Report and Literature Review

ABSTRACT Background The complex pathogenetic mechanisms of rare genetic diseases make the diagnostic process highly challenging. Advances in molecular genomic techniques, such as exome sequencing, have improved the identification of copy number variants (CNVs), increasing diagnostic yield. Methods W...

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Hlavní autoři:	Elia Marco Paolo Minale, Stefania Martone, Chiara Criscuolo, Roberta Marra, Vito Alessandro Lasorsa, Raffaella Ruggiero, Teresa Suero, Mario Capasso, Immacolata Andolfo, Achille Iolascon, Roberta Russo, Michele Pinelli
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Wiley 2026-04-01
Edice:	Molecular Genetics & Genomic Medicine
Témata:	10p15.3 microdeletion 7p22.1 duplication chromatinopathy ZMYND11
On-line přístup:	https://doi.org/10.1002/mgg3.70164
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