ArticleMolecular syndromology2025

Homozygous PGAP2 Mutation Causes Hyperphosphatasia with Mental Retardation Syndrome-3: Genetic and Clinical Evaluation of the Ultra-Rare Inherited Glycosylphosphatidylinositol Biosynthesis Defect.

Aynur Küçükçongar Yavaş et al.PubMed ↗Full text ↗Publisher ↗

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