Novel germline variants in KMT2C in Chinese patients with Kleefstra syndrome-2

Novel germline variants in KMT2C in Chinese patients with Kleefstra syndrome-2

Kleefstra syndrome (KLEFS) refers to a rare inherited neurodevelopmental disorder characterized by intellectual disability (ID), language and motor delays, behavioral abnormalities, abnormal facial appearance, and other variable clinical features. KLEFS is subdivided into two subtypes: Kleefstra syn...

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Bibliographic Details
Main Authors: Qi Yang, Qiang Zhang, Sheng Yi, Shujie Zhang, Shang Yi, Xunzhao Zhou, Zailong Qin, Biyan Chen, Jingsi Luo
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-01-01
Series:Frontiers in Neurology
Subjects:
Kleefstra syndrome-2
KMT2C
novel variants
whole-exome sequencing
genotype-phenotype correlation
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2024.1340458/full

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https://www.frontiersin.org/articles/10.3389/fneur.2024.1340458/full

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