A Rare Variant in PGAP2 Causes Autosomal Recessive Hyperphosphatasia with Mental Retardation Syndrome, with a Mild Phenotype in Heterozygous Carriers

Mutations in genes involved in the biosynthesis of the glycosylphosphatidylinositol (GPI) anchor cause autosomal recessive glycosylation defects, with a wide phenotypic spectrum of intellectual disability, seizures, minor facial dysmorphism, hypotonia, and elevated serum alkaline phosphatase. We now...

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Detalles Bibliográficos
Autores principales: Perez, Yonatan, Wormser, Ohad, Sadaka, Yair, Birk, Ruth, Narkis, Ginat, Birk, Ohad S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5651094/
https://www.ncbi.nlm.nih.gov/pubmed/29119105
http://dx.doi.org/10.1155/2017/3470234

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5651094/
https://www.ncbi.nlm.nih.gov/pubmed/29119105
http://dx.doi.org/10.1155/2017/3470234

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