Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome
Open Access
- 16 October 2013
- journal article
- research article
- Published by Springer Science and Business Media LLC in European Journal of Human Genetics
- Vol. 22 (6), 762-767
- https://doi.org/10.1038/ejhg.2013.241
Abstract
No abstract availableKeywords
This publication has 7 references indexed in Scilit:
- PGAP2 Mutations, Affecting the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation SyndromeAmerican Journal of Human Genetics, 2013
- Hypomorphic Mutations in PGAP2, Encoding a GPI-Anchor-Remodeling Protein, Cause Autosomal-Recessive Intellectual DisabilityAmerican Journal of Human Genetics, 2013
- Mutations in PIGO, a Member of the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental RetardationAmerican Journal of Human Genetics, 2012
- Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome)American Journal of Medical Genetics Part A, 2012
- Hyperphosphatasia‐mental retardation syndrome due to PIGV mutations: Expanded clinical spectrumAmerican Journal of Medical Genetics Part A, 2011
- Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndromeNature Genetics, 2010
- Developmental abnormalities of glycosylphosphatidylinositol-anchor-deficient embryos revealed by Cre/loxP system.1999