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Article

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

Taiwanese journal of obstetrics & gynecology - 1 Mar 2021

Chu Fu-Chieh, Hii Ling-Yien, Hung Tai-Ho, Lo Liang-Ming, Hsieh T'sang-T'ang, Shaw Steven W

Abstract excerpt

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 owing to a genetic mutation in COL2A1. CASE REPORT: We present the case of a 38-year-old multipara woman whose first...

Topics

Adult
Arthritis
Collagen Type II
Connective Tissue Diseases
Female
Hearing Loss, Sensorineural
Humans
Mutation
Pregnancy
Retinal Detachment
Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 33678343
DOI: 10.1016/j.tjog.2021.01.017

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