Case Report: De novo Variants of KMT2E Cause O'Donnell-Luria-Rodan Syndrome: Additional Cases and Literature Review

Case Report: De novo Variants of KMT2E Cause O'Donnell-Luria-Rodan Syndrome: Additional Cases and Literature Review

Introduction: O'Donnell-Luria-Rodan syndrome was recently identified as an autosomal dominant systemic disorder caused by variants in KMT2E. It is characterized by global developmental delay, some patients also exhibit autism, seizures, hypotonia, and/or feeding difficulties.Methods: Whole-exom...

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Bibliographic Details
Main Authors: Yang Li, Lijuan Fan, Rong Luo, Zuozhen Yang, Meng Yuan, Jinxiu Zhang, Jing Gan
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-02-01
Series:Frontiers in Pediatrics
Subjects:
KMT2E
O'Donnell-Luria-Rodan syndrome
epilepsy
whole-exome sequencing
neurodevelopmental disorder
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2021.641841/full

Internet

https://www.frontiersin.org/articles/10.3389/fped.2021.641841/full

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