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Results 1 - 4 of 4 for "Adams-Oliver" syndrome 6
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  1. 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
  2. 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
  3. 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
  4. 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