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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Detalles Bibliográficos
Autores principales: Härkönen, Helmi, Loid, Petra, Mäkitie, Outi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8151170/
https://www.ncbi.nlm.nih.gov/pubmed/34064542
http://dx.doi.org/10.3390/genes12050714

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8151170/
https://www.ncbi.nlm.nih.gov/pubmed/34064542
http://dx.doi.org/10.3390/genes12050714

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