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

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. Genes involv...

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Detalles Bibliográficos
Autores principales:	Abi Farraj, Layal, Khatoun, Wassim Daoud, Abou Chebel, Naji, Wakim, Victor, Dawali, Katia, Ghassibe-Sabbagh, Michella
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2019
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6829978/ https://www.ncbi.nlm.nih.gov/pubmed/31684969 http://dx.doi.org/10.1186/s13000-019-0902-5

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