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SLC26A2-Associated Diastrophic Dysplasia and rMED—Clinical Features in Affected Finnish Children and Review of the Literature

Diastrophic dysplasia (DTD) is a rare osteochondrodysplasia characterized by short-limbed short stature and joint dysplasia. DTD is caused by mutations in SLC26A2 and is particularly common in the Finnish population. However, the disease incidence in Finland and clinical features in affected individ...

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Detalhes bibliográficos
Publicado no:Genes (Basel)
Main Authors: Härkönen, Helmi, Loid, Petra, Mäkitie, Outi
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2021
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8151170/
https://ncbi.nlm.nih.gov/pubmed/34064542
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes12050714
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