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...
Main Authors: | , , , , , |
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Format: | Article |
Language: | English |
Published: |
Hindawi Limited
2017-01-01
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Series: | BioMed Research International |
Online Access: | http://dx.doi.org/10.1155/2017/3470234 |