Case report: A de novo NSD2 truncating variant in a child with Rauch-Steindl syndrome

Case report: A de novo NSD2 truncating variant in a child with Rauch-Steindl syndrome

Wolf–Hirschhorn syndrome (WHS) is a rare genetic disorder caused by a heterozygous deletion on chromosome 4p16.3, which is called the WHS critical region (WHSC). The major features of this disorder, including “Greek warrior helmet” facies, delayed growth, intellectual disability, seizures, and skele...

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Bibliographic Details
Main Authors: Qi Yang, Di Gong, Shang Yi, Jingsi Luo, Qinle Zhang
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-06-01
Series:Frontiers in Pediatrics
Subjects:
de novo
wolf-Hirschhorn syndrome
NSD2 gene
truncating variants
Rauch-Steindl syndrome
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2023.1064783/full

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