Whole Exome Sequencing Identified a Novel Biallelic SMARCAL1 Mutation in the Extremely Rare Disease SIOD

Whole Exome Sequencing Identified a Novel Biallelic SMARCAL1 Mutation in the Extremely Rare Disease SIOD

Schimke immuno-osseous dysplasia (SIOD) is an extremely rare autosomal recessive pleiotropic disease. Although biallelic mutations in SMARCAL1 gene have been reported to be the genetic etiology of SIOD, its molecular diagnosis has been challenging in a relatively proportion of cases due to the extre...

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Bibliographic Details
Main Authors: Jing Jin, Keke Wu, Zhenwei Liu, Xiaomin Chen, Shan Jiang, Zhen Wang, Weixing Li
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-06-01
Series:Frontiers in Genetics
Subjects:
Schimke immuno-osseous dysplasia (SIOD)
SMARCAL1
whole exome sequencing
mild phenotype
bioinformatics
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2019.00565/full

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https://www.frontiersin.org/article/10.3389/fgene.2019.00565/full

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