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

• Main Authors: Layal Abi Farraj (Author), Wassim Daoud Khatoun (Author), Naji Abou Chebel (Author), Victor Wakim (Author), Katia Dawali (Author), Michella Ghassibe-Sabbagh (Author)
• Format: Book
• Published: BMC, 2019-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background 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, intellectual disability, cardiac abnormalities, and developmental delay. Gene...