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Results 1 - 7 of 7 for "Adams-Oliver" syndrome 6
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  1. Adams-Oliver syndrome 
    ... Registry: Adams-Oliver syndrome 5 Genetic Testing Registry: Adams-Oliver syndrome 6 Adams-Oliver syndrome National Organization for Rare Disorders ( ... SYNDROME 2; AOS2 ADAMS-OLIVER SYNDROME 3; AOS3 ADAMS-OLIVER SYNDROME 6; AOS6 PubMed Cohen I, Silberstein E, Perez Y, ...
    https://medlineplus.gov/genetics/condition/adams-oliver-syndrome - Genetics
  2. DOCK6 gene 
    ... responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies. Hum Mutat. 2015 Jun;36(6):593-8. doi: 10.1002/humu.22795. Epub ...
    https://medlineplus.gov/genetics/gene/dock6 - Genetics
  3. ARHGAP31 gene 
    ... limb reduction defects: extending the clinical spectrum of Adams-Oliver syndrome and ARHGAP31 mutations. Am J Med Genet A. 2014 Jun;164A(6):1576-9. doi: 10.1002/ajmg.a.36486. ...
    https://medlineplus.gov/genetics/gene/arhgap31 - Genetics
  4. RBPJ gene 
    ... RBPJ mutations identified in two families affected by Adams-Oliver syndrome. Am J Hum ... Eur J Endocrinol. 2013 May 8;168(6):R95-103. doi: 10.1530/EJE-13-0115. ...
    https://medlineplus.gov/genetics/gene/rbpj - Genetics
  5. 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
  6. Polymicrogyria 
    ... birth defects. These include 22q11.2 deletion syndrome, Adams-Oliver syndrome, Aicardi syndrome, Galloway-Mowat syndrome, Joubert syndrome, and ... CA, Guerrini R. Bilateral frontoparietal polymicrogyria, Lennox-Gastaut ... mutations. Epilepsia. 2009 Jun;50(6):1344-53. doi: 10.1111/j.1528-1167. ...
    https://medlineplus.gov/genetics/condition/polymicrogyria - Genetics
  7. 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