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Results 1 - 8 of 8 for "Adams-Oliver" syndrome 1
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  1. Adams-Oliver syndrome 
    ... Testing Registry: Adams-Oliver syndrome Genetic Testing Registry: Adams-Oliver syndrome 1 Genetic Testing Registry: Adams-Oliver syndrome 2 Genetic ... Oliver syndrome National Organization for Rare Disorders (NORD) ADAMS-OLIVER SYNDROME 1; AOS1 ADAMS-OLIVER SYNDROME 5; AOS5 ADAMS-OLIVER ...
    https://medlineplus.gov/genetics/condition/adams-oliver-syndrome - Genetics
  2. Nonsyndromic aplasia cutis congenita 
    ... in other conditions, including Johanson-Blizzard syndrome and Adams-Oliver syndrome. These instances are described as syndromic aplasia cutis congenita. Aplasia cutis congenita affects approximately 1 in 10,000 newborns. The incidence of the ...
    https://medlineplus.gov/.../nonsyndromic-aplasia-cutis-congenita - Genetics
  3. NOTCH1 gene 
    The NOTCH1 gene provides instructions for making a protein called Notch1, a member of the Notch family of receptors. Receptor proteins have specific sites ...
    https://medlineplus.gov/genetics/gene/notch1 - Genetics
  4. ARHGAP31 gene 
    ... limb reduction defects: extending the clinical spectrum of Adams-Oliver syndrome ... Rho GTPases lead the way. Dev Biol. 2004 Jan 1;265(1):23-32. doi: 10.1016/j. ...
    https://medlineplus.gov/genetics/gene/arhgap31 - Genetics
  5. RBPJ gene 
    ... 211912.112. Erratum In: Genes Dev. 2013 Jun 1;27(11):1313. Citation on PubMed ... two families affected by Adams-Oliver syndrome. Am J Hum Genet. 2012 Aug 10;91( ...
    https://medlineplus.gov/genetics/gene/rbpj - Genetics
  6. DOCK6 gene 
    ... the way. Dev Biol. 2004 Jan 1;265(1):23-32. doi: 10.1016/j.ydbio.2003.06.003. ... organization and Adams-Oliver syndrome. Am J Hum Genet. 2011 Aug 12;89( ...
    https://medlineplus.gov/genetics/gene/dock6 - Genetics
  7. 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
  8. Polymicrogyria 
    ... birth defects. These include 22q11.2 deletion syndrome, Adams-Oliver syndrome, Aicardi syndrome, Galloway-Mowat syndrome, Joubert syndrome, and ... Andermann F. Familial perisylvian polymicrogyria: a new familial syndrome of ... 2000 Jul;48(1):39-48. Citation on PubMed Guerrini R, Barkovich ...
    https://medlineplus.gov/genetics/condition/polymicrogyria - Genetics