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Results 1 - 9 of 9 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
  9. Skin Conditions (National Library of Medicine)  
    What does your skin do? Your skin is your body's largest organ. It covers the entire outside of your body. There are many ways that your skin protects ...
    https://medlineplus.gov/skinconditions.html - Health Topics