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

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

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...

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Bibliographic Details
Main Authors: Layal Abi Farraj, Wassim Daoud Khatoun, Naji Abou Chebel, Victor Wakim, Katia Dawali, Michella Ghassibe-Sabbagh
Format: Article
Language:English
Published: BMC 2019-11-01
Series:Diagnostic Pathology
Subjects:
Cleft palate
PGAP3
Lebanese population
Syndromic
HPMRS
Online Access:http://link.springer.com/article/10.1186/s13000-019-0902-5

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http://link.springer.com/article/10.1186/s13000-019-0902-5

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