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Results 1 - 8 of 8 for "Adams-Oliver" syndrome 5
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  1. Adams-Oliver syndrome 
    ... Registry: Adams-Oliver syndrome 4 Genetic Testing Registry: Adams-Oliver syndrome 5 Genetic Testing Registry: Adams-Oliver syndrome 6 Adams- ... Rare Disorders (NORD) ADAMS-OLIVER SYNDROME 1; AOS1 ADAMS-OLIVER SYNDROME 5; AOS5 ADAMS-OLIVER SYNDROME 4; AOS4 ADAMS-OLIVER ...
    https://medlineplus.gov/genetics/condition/adams-oliver-syndrome - Genetics
  2. RBPJ gene 
    ... 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.2012.07.005. ...
    https://medlineplus.gov/genetics/gene/rbpj - Genetics
  3. 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
  4. 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
  5. DOCK6 gene 
    ... nerve cells. Mutations in the DOCK6 gene cause Adams-Oliver syndrome, a condition characterized by areas of missing skin ( ... intellectual disability, are more common in DOCK6-related Adams-Oliver syndrome than in cases associated with other genes. Most ...
    https://medlineplus.gov/genetics/gene/dock6 - Genetics
  6. 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
  7. Polymicrogyria 
    ... birth defects. These include 22q11.2 deletion syndrome, Adams-Oliver syndrome, Aicardi syndrome, Galloway-Mowat syndrome, Joubert syndrome, and ... CA. Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes. Ann Neurol. 2005 Nov;58(5):680-7. doi: 10.1002/ana.20616. Citation ...
    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