Associated Papers
Complexity of Inheritance of Pathogenic Mutations Associated with Epilepsy in Consanguine Families from Pakistan.
Tahira K et al.
Genes, 2026
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
Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families.
Harripaul R et al.
Molecular Psychiatry, 2018
Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability.
Hansen L et al.
American Journal of Human Genetics, 2013
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