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Novel COL11A2 Pathogenic Variants in a Child with Autosomal Recessive Otospondylomegaepiphyseal Dysplasia: A Review of the Literature
Otospondylomegaepiphyseal dysplasia (OSMED) is an inherited autosomal dominant and recessive skeletal dysplasia caused by both heterozygous and homozygous pathogenic variants in COL11A2 encoding the α2(XI) collagen chains, a part of type XI collagen. Here, we describe a 2-year-old girl presenting fr...
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| Publicado no: | J Pediatr Genet |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Georg Thieme Verlag KG
2020
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| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7183404/ https://ncbi.nlm.nih.gov/pubmed/32341816 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0039-1698446 |
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