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Article

Hyperphosphatasia with mental retardation syndrome type 4 In two siblings-expanding the phenotypic and mutational spectrum.

European journal of medical genetics - 1 Jun 2019

Akgün Doğan Özlem, Demir Gizem Ürel, Kosukcu Can, Taskiran Ekim Z, Simsek-Kiper Pelin Özlem, Utine Gülen Eda, Alikaşifoğlu Mehmet, Boduroğlu Koray

Abstract excerpt

Hyperphosphatasia with mental retardation syndrome (HPMRS) (OMIM # 239300), is an autosomal recessive disease with phenotypic variability, ranging from mild nonsyndromic intellectual disability to syndromic form with severe intellectual disability, seizures, elevated alkaline phosphatase, brachytelephalangy and facial dysmorphism, Six subgroups of HPMRS were defined in which pathogenic mutations affect genes...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 30217754
DOI: 10.1016/j.ejmg.2018.09.002

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