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Results 1 - 10 of 10 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. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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