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...

詳細記述

書誌詳細

主要な著者:	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
フォーマット:	Artigo
言語:	Inglês
出版事項:	Wiley 2026-04-01
シリーズ:	Molecular Genetics & Genomic Medicine
主題:	10p15.3 microdeletion 7p22.1 duplication chromatinopathy ZMYND11
オンライン･アクセス:	https://doi.org/10.1002/mgg3.70164
タグ:	タグ追加 タグなし, このレコードへの初めてのタグを付けませんか!