Novel Compound Heterozygous Mutations in CRTAP Cause Rare Autosomal Recessive Osteogenesis Imperfecta

Novel Compound Heterozygous Mutations in CRTAP Cause Rare Autosomal Recessive Osteogenesis Imperfecta

Whole-exome sequencing (WES) has advantages over the traditional molecular test by screening 20,000 genes simultaneously and has become an invaluable tool for genetic diagnosis in clinical practice. Here, we reported a family with a child and a fetus presenting undiagnosed skeletal dysplasia phenoty...

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Bibliographic Details
Main Authors: Yen-An Tang, Lin-Yen Wang, Chiao-May Chang, I-Wen Lee, Wen-Hui Tsai, H. Sunny Sun
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-08-01
Series:Frontiers in Genetics
Subjects:
whole-exome sequencing
CRTAP
skeletal dysplasia
osteogenesis imperfecta
splicing-altering variant
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2020.00897/full

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https://www.frontiersin.org/article/10.3389/fgene.2020.00897/full

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