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

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 with Fibroc...

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Detalles Bibliográficos
Autores principales: Mirtavoos‐Mahyari, Hanifeh, Ajami, Sanaz, Mehrtash, Amirhosein, Marashiyan, Seyedeh Mahya, Bahreini, Farbod, Sheikhy, Kambiz, Ghanbari, Sogol, Ardeshirdavani, Amin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9664532/
https://www.ncbi.nlm.nih.gov/pubmed/36397853
http://dx.doi.org/10.1002/ccr3.6574

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9664532/
https://www.ncbi.nlm.nih.gov/pubmed/36397853
http://dx.doi.org/10.1002/ccr3.6574

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