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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Detalles Bibliográficos
Autores principales: Zhao, Weiqing, Hu, Xiao, Liu, Ye, Wang, Xike, Chen, Yun, Wang, Yangyang, Zhou, Hao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8435705/
https://www.ncbi.nlm.nih.gov/pubmed/34527642
http://dx.doi.org/10.3389/fped.2021.678615

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8435705/
https://www.ncbi.nlm.nih.gov/pubmed/34527642
http://dx.doi.org/10.3389/fped.2021.678615

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