Whole Exome Sequencing with Comprehensive Gene Set Analysis Identified a Biparental-Origin Homozygous c.509G>A Mutation in <i>PPIB</i> Gene Clustered in Two Taiwanese Families Exhibiting Fetal Skeletal Dysplasia during Prenatal Ultrasound

Whole Exome Sequencing with Comprehensive Gene Set Analysis Identified a Biparental-Origin Homozygous c.509G>A Mutation in <i>PPIB</i> Gene Clustered in Two Taiwanese Families Exhibiting Fetal Skeletal Dysplasia during Prenatal Ultrasound

Skeletal dysplasia (SD) is a complex group of bone and cartilage disorders often detectable by fetal ultrasound, but the definitive diagnosis remains challenging because the phenotypes are highly variable and often overlap among different disorders. The molecular mechanisms underlying this condition...

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Bibliographic Details
Main Authors: Ting-Yu Chang, I-Fang Chung, Wan-Ju Wu, Shun-Ping Chang, Wen-Hsiang Lin, Norman A. Ginsberg, Gwo-Chin Ma, Ming Chen
Format: Article
Language:English
Published: MDPI AG 2020-05-01
Series:Diagnostics
Subjects:
WES
fetal diagnosis
skeletal dysplasia
<i>PPIB</i>
trio analysis
osteogenesis imperfecta
Online Access:https://www.mdpi.com/2075-4418/10/5/286

Internet

https://www.mdpi.com/2075-4418/10/5/286

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