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Results 1 - 10 of 11 for "Adams-Oliver" syndrome
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  1. Adams-Oliver syndrome 
    Adams-Oliver syndrome is a rare condition that is present at birth. The primary features are an abnormality in ...
    https://medlineplus.gov/genetics/condition/adams-oliver-syndrome - Genetics
  2. 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
  3. EOGT gene 
    ... EOGT gene have been found in individuals with Adams-Oliver syndrome. This condition is characterized by areas of missing ... or how it leads to the features of Adams-Oliver syndrome. More About This Health Condition AER61 AER61 glycosyltransferase ...
    https://medlineplus.gov/genetics/gene/eogt - 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. 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. 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
  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
  10. 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
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