The phenotypic spectrum in a patient with Glycine to Serine mutation in the COL2A1 gene: overview study

The phenotypic spectrum in a patient with Glycine to Serine mutation in the COL2A1 gene: overview study

Objective: Osteochondrodysplasias are a heterogeneous group of genetic skeletal dysplasias. Mutations in the COL2A1 gene cause a spectrum of rare autosomal-dominant type II collagenopathies characterized by skeletal dysplasia, short stature, and with vision and auditory defects. In this study, we h...

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Main Authors: Mohammad Shboul, Hela Sassi, Houweyda Jilani, Imen Rejeb, Yasmina Elaribi, Syrine Hizem, Lamia Ben Jemaa, Marwa Hilmi, Susanna Gerit Kircher, Ali Al Kaissi
Format: Article
Language:English
Published: AIMS Press 2021-02-01
Series:AIMS Molecular Science
Subjects:
mutation col2a1
spondyloepiphyseal dysplasia congenita
extended phenotype
Online Access:http://www.aimspress.com/article/doi/10.3934/molsci.2021006?viewType=HTML

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http://www.aimspress.com/article/doi/10.3934/molsci.2021006?viewType=HTML

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