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Results 1 - 5 of 5 for IMAGe syndrome
  1. CDKN1C gene 
    ... this condition. Because this gene is paternally imprinted, IMAGe syndrome results only when the variant is present on ... the gene.The CDKN1C gene variants that cause IMAGe syndrome replace single amino acids in a region known ...
    https://medlineplus.gov/genetics/gene/cdkn1c - Genetics
  2. PITX1 gene 
    ... a severe form of the abnormality called mirror-image polydactyly. These mutations ... syndrome (described above), these genetic changes reduce the amount ...
    https://medlineplus.gov/genetics/gene/pitx1 - Genetics
  3. COMT gene 
    ... cognitive decline and psychosis in 22q11.2 deletion syndrome. Nat Neurosci. 2005 ... 2005 Jan;10(1):40-68; image 5. doi: 10.1038/sj.mp.4001558. Erratum ...
    https://medlineplus.gov/genetics/gene/comt - Genetics
  4. PGAP2 gene 
    ... anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome. ... T. [Video image analysis of respiratory and cardiac activity of tadpoles ...
    https://medlineplus.gov/genetics/gene/pgap2 - Genetics
  5. COL1A1 gene 
    ... by the body and undetectable on x-ray images by the age of 2.The mutation that ... found to cause several forms of Ehlers-Danlos syndrome, a group of disorders that affect the connective ...
    https://medlineplus.gov/genetics/gene/col1a1 - Genetics