Trio‐WES reveals a novel de novo missense mutation of KMT2A in a Chinese patient with Wiedemann‐Steiner syndrome: A case report

Trio‐WES reveals a novel de novo missense mutation of KMT2A in a Chinese patient with Wiedemann‐Steiner syndrome: A case report

Abstract Background Wiedemann‐Steiner Syndrome (WSS) is an autosomal dominant genetic condition caused by mutations in the KMT2A gene. Lysine methyltransferase, encoded by KMT2A, plays critical roles in the regulation of gene expression during early development. Methods Trio‐based whole exome sequen...

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Bibliographic Details
Main Authors: Xiong Wang, Guijiao Zhang, Yanjun Lu, Xiaoping Luo, Wei Wu
Format: Article
Language:English
Published: Wiley 2021-01-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
de novo mutation
KMT2A
whole exome sequencing
Wiedemann‐Steiner syndrome
Online Access:https://doi.org/10.1002/mgg3.1533

Internet

https://doi.org/10.1002/mgg3.1533

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