Associated Papers
Homozygous PGAP2 Mutation Causes Hyperphosphatasia with Mental Retardation Syndrome-3: Genetic and Clinical Evaluation of the Ultra-Rare Inherited Glycosylphosphatidylinositol Biosynthesis Defect.
Küçükçongar Yavaş A et al.
Molecular Syndromology, 2025
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
Hyperphosphatasia with mental retardation syndrome 3: Cerebrospinal fluid abnormalities and correction with pyridoxine and Folinic acid.
Messina M et al.
Jimd Reports, 2023
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