SETD5 Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome

SETD5 Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome

Mendelian disorders of the epigenetic machinery (MDEMs), also named chromatin modifying disorders, are a broad group of neurodevelopmental disorders, caused by mutations in functionally related chromatin genes. Mental retardation autosomal dominant 23 (MRD23) syndrome, due to SETD5 gene mutations, f...

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Bibliographic Details
Main Authors: Milena Crippa, Ilaria Bestetti, Silvia Maitz, Karin Weiss, Alice Spano, Maura Masciadri, Sarah Smithson, Lidia Larizza, Karen Low, Lior Cohen, Palma Finelli
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-07-01
Series:Frontiers in Neurology
Subjects:
MRD23
3p25 microdeletion syndrome
KBG syndrome
SETD5 haploinsufficiency
WES
Online Access:https://www.frontiersin.org/article/10.3389/fneur.2020.00631/full

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