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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

2021-04-02

Abstract excerpt

<title>Abstract</title> <p>BackgroundFibrochondrogenesis 1, an autosomal recessive syndrome, is an infrequent and rare disease, causing short-limbed skeletal dysplasia. This syndrome is clinically characterized and distinguished by a small nose and anteverted bares, flat midface, shortened long bones, and a protuberant abdomen. Mutations in the gene encoding the α1 chain of type XI collagen (COL11A1) are seen to...

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Literature Corpus work
44fd97b1-c38a-5de1-8bbd-4bc3d1db2e50
DOI
10.21203/rs.3.rs-369154/v1
Open publication

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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 ReportDOI 10.21203/rs.3.rs-369154/v1
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