Aberrant splicing caused by a novel KMT2A variant in Wiedemann–Steiner syndrome

Aberrant splicing caused by a novel KMT2A variant in Wiedemann–Steiner syndrome

Abstract Introduction Wiedemann–Steiner syndrome (WSS) is a rare autosomal‐dominant disorder caused by KMT2A variants. The aim of this study was to characterize a novel KMT2A variant in a child with WSS and demonstrate integrated diagnostic approaches. Methods A 3‐year‐old female with developmental...

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Bibliographic Details
Main Authors: Jianing Niu, Xiaoming Teng, Junyu Zhang
Format: Article
Language:English
Published: Wiley 2024-03-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
KMT2A
RNA analysis
whole exome sequencing
Wiedemann–Steiner syndrome
Online Access:https://doi.org/10.1002/mgg3.2415

Internet

https://doi.org/10.1002/mgg3.2415

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