Article
Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome.
European journal of human genetics : EJHG - 1 Jun 2014
Horn Denise, Wieczorek Dagmar, Metcalfe Kay, Barić Ivo, Paležac Lidija, Cuk Mario, Petković Ramadža Danijela, Krüger Ulrike, Demuth Stephanie, Heinritz Wolfram, Linden Tobias, Koenig Jens, Robinson Peter N, Krawitz Peter
Abstract excerpt
Three different genes of the glycosylphosphatidylinositol anchor synthesis pathway, PIGV, PIGO, and PGAP2, have recently been implicated in hyperphosphatasia-mental retardation syndrome (HPMRS), also known as Mabry syndrome, a rare autosomal recessive form of intellectual disability. The aim of this study was to delineate the PIGV mutation spectrum as well as the associated phenotypic spectrum in a cohort of 16...
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