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Results 1 - 9 of 9 for "Adams-Oliver" syndrome 2
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  1. Adams-Oliver syndrome 
    ... Registry: Adams-Oliver syndrome 1 Genetic Testing Registry: Adams-Oliver syndrome 2 Genetic Testing Registry: Adams-Oliver syndrome 3 Genetic ... SYNDROME 5; AOS5 ADAMS-OLIVER SYNDROME 4; AOS4 ADAMS-OLIVER SYNDROME 2; AOS2 ADAMS-OLIVER SYNDROME 3; AOS3 ADAMS-OLIVER ...
    https://medlineplus.gov/genetics/condition/adams-oliver-syndrome - Genetics
  2. RBPJ gene 
    ... Warner J, Gaffney PM. RBPJ mutations identified in two families affected by Adams-Oliver syndrome. Am J Hum Genet. 2012 Aug 10;91(2):391-5. doi: 10.1016/j.ajhg.2012. ...
    https://medlineplus.gov/genetics/gene/rbpj - Genetics
  3. Polymicrogyria 
    ... disability and multiple birth defects. These include 22q11.2 deletion syndrome, Adams-Oliver syndrome, Aicardi syndrome, Galloway-Mowat syndrome, Joubert syndrome, ...
    https://medlineplus.gov/genetics/condition/polymicrogyria - Genetics
  4. DOCK6 gene 
    ... DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome. Am J Hum Genet. 2011 Aug 12;89(2):328-33. doi: 10.1016/j.ajhg.2011. ...
    https://medlineplus.gov/genetics/gene/dock6 - Genetics
  5. EOGT gene 
    ... cell-matrix interactions. Nat Commun. 2011 Dec 13;2:583. doi: ... of autosomal-recessive Adams-Oliver syndrome. Am J Hum Genet. 2013 Apr 4;92( ...
    https://medlineplus.gov/genetics/gene/eogt - Genetics
  6. NOTCH1 gene 
    ... the NOTCH1 gene have been found to cause Adams-Oliver syndrome, a condition characterized by areas of missing skin ( ... Some of the NOTCH1 gene mutations involved in Adams-Oliver syndrome lead to production of an abnormally short protein ...
    https://medlineplus.gov/genetics/gene/notch1 - Genetics
  7. DLL4 gene 
    ... gene mutations have been found in people with Adams-Oliver syndrome, a condition characterized by areas of missing skin ( ... may underlie blood vessel abnormalities in people with Adams-Oliver syndrome; however, some people with DLL4-related Adams-Oliver ...
    https://medlineplus.gov/genetics/gene/dll4 - Genetics
  8. ARHGAP31 gene 
    ... in the ARHGAP31 gene are known to cause Adams-Oliver syndrome, a condition characterized by areas of missing skin ( ... limb reduction defects: extending the clinical spectrum of Adams-Oliver syndrome and ARHGAP31 mutations. Am J Med Genet A. ...
    https://medlineplus.gov/genetics/gene/arhgap31 - 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