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Results 1 - 4 of 4 for Hyperphosphatasia with mental retardation syndrome
Did you mean hypophosphatasia with mental retardation syndrome?
  1. Mabry syndrome 
    ... Krawitz P, Mannhardt A, Korenke GC, Meinecke P. Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: expanded clinical spectrum. Am ... of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. Nat Genet. 2010 Oct;42(10):827-9. ...
    https://medlineplus.gov/genetics/condition/mabry-syndrome - Genetics
  2. PIGV gene 
    ... Krawitz P, Mannhardt A, Korenke GC, Meinecke P. Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: expanded clinical spectrum. Am ... of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. Nat Genet. 2010 Oct;42(10):827-9. ...
    https://medlineplus.gov/genetics/gene/pigv - Genetics
  3. PGAP2 gene 
    ... mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome. Am J Hum Genet. 2013 Apr 4;92( ...
    https://medlineplus.gov/genetics/gene/pgap2 - Genetics
  4. PIGO gene 
    ... PIGO gene have been found to cause Mabry syndrome, a condition characterized by intellectual disability, distinctive facial features, increased levels of an enzyme called alkaline phosphatase in the blood (hyperphosphatasia), and other signs and symptoms. These mutations change ...
    https://medlineplus.gov/genetics/gene/pigo - Genetics