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

• Главные авторы: Layal Abi Farraj (Автор), Wassim Daoud Khatoun (Автор), Naji Abou Chebel (Автор), Victor Wakim (Автор), Katia Dawali (Автор), Michella Ghassibe-Sabbagh (Автор)
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• Опубликовано: BMC, 2019-11-01T00:00:00Z.
• Предметы: article
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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...