Clinical whole‐exome sequencing analysis reveals a novel missense COL11A1 mutation resulting in an 18‐week Iranian male aborted fetus with Fibrochondrogenesis 1: A case report

Clinical whole‐exome sequencing analysis reveals a novel missense COL11A1 mutation resulting in an 18‐week Iranian male aborted fetus with Fibrochondrogenesis 1: A case report

Abstract Fibrochondrogenesis 1, an autosomal recessive syndrome, is a rare disease that causes short‐limbed skeletal dysplasia. Mutations in the gene encoding the α1 chain of type XI collagen (COL11A1) are seen to be the main cause of this disease. We present an 18‐week Iranian male aborted fetus wi...

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Bibliographic Details
Main Authors: Hanifeh Mirtavoos‐Mahyari, Sanaz Ajami, Amirhosein Mehrtash, Seyedeh Mahya Marashiyan, Farbod Bahreini, Kambiz Sheikhy, Sogol Ghanbari, Amin Ardeshirdavani
Format: Article
Language:English
Published: Wiley 2022-11-01
Series:Clinical Case Reports
Subjects:
aborted fetus
collagen type XI α1 (COL11A1)
Fibrochondrogenesis
whole‐exome sequencing (WES)
Online Access:https://doi.org/10.1002/ccr3.6574

Internet

https://doi.org/10.1002/ccr3.6574

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