Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome-Reference-Cited by-同舟云学术

Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome

Published:2013-10-16 Issue:6 Volume:22 Page:762-767
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Horn Denise,Wieczorek Dagmar,Metcalfe Kay,Barić Ivo,Paležac Lidija,Ćuk Mario,Petković Ramadža Danijela,Krüger Ulrike,Demuth Stephanie,Heinritz Wolfram,Linden Tobias,Koenig Jens,Robinson Peter N,Krawitz Peter

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2013241.pdf

Reference7 articles.

1. Hansen L, Tawamie H, Murakami Y et al: Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability. Am J Hum Genet 2013; 92: 575–583.

2. Krawitz PM, Murakami Y, Riess A et al: PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome. Am J Hum Genet 2013; 92: 584–589.

3. Krawitz PM, Schweiger MR, Rödelsperger C et al: Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. Nat Genet 2010; 42: 827–829.

4. Krawitz PM, Murakami Y, Hecht J et al: Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation. Am J Hum Genet 2012; 91: 146–151.

5. Thompson MD, Roscioli T, Marcelis C et al: Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome). Am J Med Genet A 2012; 158A: 553–558.

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