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Results 1 - 8 of 8 for "Adams-Oliver" syndrome 3
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  1. Adams-Oliver syndrome 
    ... Registry: Adams-Oliver syndrome 2 Genetic Testing Registry: Adams-Oliver syndrome 3 Genetic Testing Registry: Adams-Oliver syndrome 4 Genetic ... SYNDROME 4; AOS4 ADAMS-OLIVER SYNDROME 2; AOS2 ADAMS-OLIVER SYNDROME 3; AOS3 ADAMS-OLIVER SYNDROME 6; AOS6 PubMed Cohen ...
    https://medlineplus.gov/genetics/condition/adams-oliver-syndrome - Genetics
  2. DLL4 gene 
    ... Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome. Am J Hum Genet. 2015 Sep 3;97(3):475-82. doi: 10.1016/j. ...
    https://medlineplus.gov/genetics/gene/dll4 - Genetics
  3. NOTCH1 gene 
    ... Roach JC, Patel MS. Mutations in NOTCH1 cause Adams-Oliver syndrome. Am J Hum Genet. 2014 Sep 4;95(3):275-84. doi: 10.1016/j.ajhg.2014. ...
    https://medlineplus.gov/genetics/gene/notch1 - Genetics
  4. EOGT gene 
    ... muscles, and blood cells, among others. At least three mutations in the EOGT gene have been found in individuals with Adams-Oliver syndrome. This condition is characterized by areas of missing ...
    https://medlineplus.gov/genetics/gene/eogt - Genetics
  5. ARHGAP31 gene 
    ... of the limbs, skull, and heart. At least three mutations in the ARHGAP31 gene are known to cause Adams-Oliver syndrome, a condition characterized by areas of missing skin ( ...
    https://medlineplus.gov/genetics/gene/arhgap31 - Genetics
  6. RBPJ gene 
    ... development. Mutations in the RBPJ gene lead to Adams-Oliver syndrome, a condition characterized by areas of missing skin ( ... RBPJ mutations identified in two families affected by Adams-Oliver syndrome. Am J Hum Genet. 2012 Aug 10;91( ...
    https://medlineplus.gov/genetics/gene/rbpj - Genetics
  7. Polymicrogyria 
    ... birth defects. These include 22q11.2 deletion syndrome, Adams-Oliver syndrome, Aicardi syndrome, Galloway-Mowat syndrome, Joubert syndrome, and ...
    https://medlineplus.gov/genetics/condition/polymicrogyria - Genetics
  8. Nonsyndromic aplasia cutis congenita 
    ... in other conditions, including Johanson-Blizzard syndrome and Adams-Oliver syndrome. These instances are described as syndromic aplasia cutis ...
    https://medlineplus.gov/.../nonsyndromic-aplasia-cutis-congenita - Genetics