Rhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Gene

Peroxisomes are involved in various metabolic reactions. Rhizomelic chondrodysplasia punctata (RCDP) type 1 is one of the peroxisomal biogenesis disorders caused by mutations in the PEX7 gene and is inherited in an autosomal recessive manner. We present a nine-year-old boy with skeletal abnormalitie...

Descripción completa

Detalles Bibliográficos
Autores principales: Çim, Abdullah, Coşkun, Salih, Görükmez, Orhan, Yüksel, Hatice, Uluca, Ünal, Di Pietro, Erminia, Plourde, François, Elise Braverman, Nancy
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4439895/
https://www.ncbi.nlm.nih.gov/pubmed/25800479
http://dx.doi.org/10.4274/jcrpe.1835

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4439895/
https://www.ncbi.nlm.nih.gov/pubmed/25800479
http://dx.doi.org/10.4274/jcrpe.1835

Ejemplares similares