Clinical and Genetic Characteristics of Multiple Epiphyseal Dysplasia Type 4

Multiple epiphyseal dysplasias (MED) are a clinically and genetically heterogeneous group of skeletal dysplasias with a predominant lesion in the epiphyses of tubular bones. Variants in the SLC26A2 gene cause their autosomal recessive form (rMED or MED type 4). The accumulation of data regarding the...

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Detalles Bibliográficos
Autores principales: Markova, Tatiana, Kenis, Vladimir, Melchenko, Evgenii, Alieva, Aynur, Nagornova, Tatiana, Orlova, Anna, Ogorodova, Natalya, Shchagina, Olga, Polyakov, Alexander, Dadali, Elena, Kutsev, Sergey
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9498659/
https://www.ncbi.nlm.nih.gov/pubmed/36140680
http://dx.doi.org/10.3390/genes13091512

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9498659/
https://www.ncbi.nlm.nih.gov/pubmed/36140680
http://dx.doi.org/10.3390/genes13091512

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