Dysmorphic Facial Features and Other Clinical Characteristics in Two Patients with PEX1 Gene Mutations

Peroxisomal disorders are a group of genetically heterogeneous metabolic diseases related to dysfunction of peroxisomes. Dysmorphic features, neurological abnormalities, and hepatic dysfunction can be presenting signs of peroxisomal disorders. Here we presented dysmorphic facial features and other c...

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Detalles Bibliográficos
Autores principales: Gunduz, Mehmet, Unal, Ozlem
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5110867/
https://www.ncbi.nlm.nih.gov/pubmed/27882258
http://dx.doi.org/10.1155/2016/5175709

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5110867/
https://www.ncbi.nlm.nih.gov/pubmed/27882258
http://dx.doi.org/10.1155/2016/5175709

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