A de novo Variant of ASXL1 Is Associated With an Atypical Phenotype of Bohring-Opitz Syndrome: Case Report and Literature Review

A de novo Variant of ASXL1 Is Associated With an Atypical Phenotype of Bohring-Opitz Syndrome: Case Report and Literature Review

Bohring-Opitz syndrome (BOS) is a rare genetic disease first reported by Bohring et al. in 1999. With the recent development of exome sequencing (ES), de novo truncating mutations in the additional sex-combs-like 1 (ASXL1) gene have been causally implicated in BOS. Herein, we describe a 7-month-old...

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Bibliographic Details
Main Authors: Weiqing Zhao, Xiao Hu, Ye Liu, Xike Wang, Yun Chen, Yangyang Wang, Hao Zhou
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-08-01
Series:Frontiers in Pediatrics
Subjects:
Bohring-Opitz syndrome
ASXL1 gene
intrauterine growth restriction
infant
rare diseases
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2021.678615/full

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