A novel de novo mutation in COL2A1 gene associated with fetal skeletal dysplasia

A novel de novo mutation in COL2A1 gene associated with fetal skeletal dysplasia

Objective: Skeletal dysplasias, caused by genetic mutations, are a heterogenous group of heritable disorders affecting bone development during fetal life. Stickler syndrome, one of the skeletal dysplasias, is an autosomal dominant connective tissue disorder caused by abnormal collagen synthesis owin...

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Bibliographic Details
Main Authors: Fu-Chieh Chu, Ling-Yien Hii, Tai-Ho Hung, Liang-Ming Lo, T'sang-T'ang Hsieh, Steven W. Shaw
Format: Article
Language:English
Published: Elsevier 2021-03-01
Series:Taiwanese Journal of Obstetrics & Gynecology
Subjects:
COL2A1 gene
Skeletal dysplasia
Short extremities
Online Access:http://www.sciencedirect.com/science/article/pii/S1028455921000176

Internet

http://www.sciencedirect.com/science/article/pii/S1028455921000176

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