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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
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...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2022
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| Materias: | |
| 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 |