Clinical, genetic, and molecular characterization of hyperphosphatasia with mental retardation: a case report and literature review

Hyperphosphatasia with mental retardation syndrome (HPMRS) is a recessive disorder characterized by high blood levels of alkaline phosphatase together with typical dysmorphic signs such as cleft palate, intell...

Source: Diagnostic Pathology - November 4, 2019 Category: Pathology Authors: Layal Abi Farraj, Wassim Daoud Khatoun, Naji Abou Chebel, Victor Wakim, Katia Dawali and Michella Ghassibe-Sabbagh Tags: Case Report Source Type: research