A novel de novo HDAC8 missense mutation causing Cornelia de Lange syndrome

A novel de novo HDAC8 missense mutation causing Cornelia de Lange syndrome

Abstract Background Cornelia de Lange syndrome (CdLS) is a rare and clinically variable syndrome characterized by growth impairment, multi‐organ anomalies, and a typical set of facial dysmorphisms. Here we describe a 2‐year‐old female child harboring a novel de novo missense variant in HDAC8, whose...

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Bibliographic Details
Main Authors: Catia Mio, Nadia Passon, Federico Fogolari, Claudia Cesario, Antonio Novelli, Carla Pittini, Giuseppe Damante
Format: Article
Language:English
Published: Wiley 2021-09-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
Cornelia De Lange syndrome
HDAC8
molecular modeling
trio‐based exome sequencing
Online Access:https://doi.org/10.1002/mgg3.1612

Internet

https://doi.org/10.1002/mgg3.1612

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