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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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Podrobná bibliografie
Vydáno v:J Pediatr Genet
Hlavní autoři: Selvam, Pavalan, Singh, Shekhar, Jain, Angita, Atwal, Herjot, Atwal, Paldeep S.
Médium: Artigo
Jazyk:Inglês
Vydáno: Georg Thieme Verlag KG 2020
On-line přístup: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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