Adams-Oliver syndrome
Definition:
References:
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[1]. Anna-Barbara Stittrich, et al. Mutations in NOTCH1 cause Adams-Oliver syndrome. Am J Hum Genet. 2014 Sep 4;95(3):275-84. [Content Brief]
[2]. Gisela Silva, et al. Adams-Oliver syndrome and portal hypertension: fortuitous association or common mechanism?. Am J Med Genet A. 2012 Mar;158A(3):648-51. [Content Brief]
[3]. Josephina A N Meester, et al. Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome. Am J Hum Genet. 2015 Sep 3;97(3):475-82. [Content Brief]
[4]. Laura Southgate, et al. Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies. Am J Hum Genet. 2011 May 13;88(5):574-85. [Content Brief]
[5]. Ranad Shaheen, et al. Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome. Am J Hum Genet. 2013 Apr 4;92(4):598-604. [Content Brief]
[6]. Ranad Shaheen, et al. Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome. Am J Hum Genet. 2011 Aug 12;89(2):328-33. [Content Brief]
[7]. Susan J Hassed, et al. RBPJ mutations identified in two families affected by Adams-Oliver syndrome. Am J Hum Genet. 2012 Aug 10;91(2):391-5. [Content Brief]
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