Hyperphosphatasia with mental retardation syndrome, expanded phenotype of PIGL related disorders

Hypomorphic mutations in six different genes involved in the glycosylphosphatidylinositol (GPI) biogenesis pathway are linked to Mabry syndrome (hyperphosphatasia with mental retardation syndrome, HPMRS). This report on the third affected family with a HPMRS phenotype caused by mutations in PIGL, co...

Descripción completa

Detalles Bibliográficos
Autores principales: Altassan, Ruqaiah, Fox, Stephanie, Poulin, Chantal, Buhas, Daniela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6047459/
https://www.ncbi.nlm.nih.gov/pubmed/30023290
http://dx.doi.org/10.1016/j.ymgmr.2018.01.007

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6047459/
https://www.ncbi.nlm.nih.gov/pubmed/30023290
http://dx.doi.org/10.1016/j.ymgmr.2018.01.007

Ejemplares similares