Associated Papers
A case report of PGAP2-related hyperphosphatasia with impaired intellectual development syndrome in a Chinese family and literature review.
Pan Y et al.
Frontiers in Pediatrics, 2024
Macrocephaly and Digital Anomalies Expand the Phenotypic Spectrum of PGAP2 Variants in Hyperphosphatasia with Impaired Intellectual Development Syndrome 3 (HPMRS3).
Susgun S et al.
Human Mutation, 2024
Hyperphosphatasia with mental retardation syndrome 3: Cerebrospinal fluid abnormalities and correction with pyridoxine and Folinic acid.
Messina M et al.
Jimd Reports, 2023
PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome.
Krawitz PM et al.
American Journal of Human Genetics, 2013
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