Novel KMT5B variant associated with neurodevelopmental disorder in a Chinese family: A case report

Novel KMT5B variant associated with neurodevelopmental disorder in a Chinese family: A case report

Background: We report here the clinical and genetic features of KMT5B-related neurodevelopmental disorder caused by a novel heterozygous frameshift variant in KMT5B in a Chinese family. Case presentation: A 7-year-old Chinese boy with mild-to-moderate intellectual disability, significant language im...

Full description

Bibliographic Details
Main Authors: Jiao Tong, Xu Chen, Xin Wang, Shuai Men, Yuan Liu, Xun Sun, Dongmei Yan, Leilei Wang
Format: Article
Language:English
Published: Elsevier 2024-04-01
Series:Heliyon
Subjects:
KMT5B
Gene mutation
Exome sequencing
Neurodevelopmental disorder
Online Access:http://www.sciencedirect.com/science/article/pii/S2405844024047170

Internet

http://www.sciencedirect.com/science/article/pii/S2405844024047170

Similar Items