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Results 1 - 9 of 9 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. Bone Diseases (National Library of Medicine)  
    Your bones help you move, give you shape and support your body. They are living tissues that rebuild constantly throughout your life. During childhood and ...
    https://medlineplus.gov/bonediseases.html - Health Topics
  7. 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
  8. 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
  9. 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