New Structural and Single Nucleotide Mutations in Type I and Type II Collagens in Taiwanese Children With Type I and Type II Collagenopathies

New Structural and Single Nucleotide Mutations in Type I and Type II Collagens in Taiwanese Children With Type I and Type II Collagenopathies

Collagenopathy is a rare genetic condition characterized by abnormality in either collagen structure or metabolism. Variations in its clinical presentations highlight diversity in the genetic causes and potential existence of concurrent mutations. Through whole exome sequencing (WES) complemented wi...

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Bibliographic Details
Main Authors: Meng-Che Tsai, Yen-Yin Chou, Chia-Yi Li, Yi-Chieh Wang, Hui-Wen Yu, Chia-Hsiang Chen, Peng-Chieh Chen
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-07-01
Series:Frontiers in Genetics
Subjects:
osteogenesis imperfecta
spondyloepiphyseal dysplasia congenita
collagen
osteoporosis
next-generation sequencing
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2021.594285/full

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https://www.frontiersin.org/articles/10.3389/fgene.2021.594285/full

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