Robinow syndrome
Definition:
References:
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[1]. Anthony D Person, et al. WNT5A mutations in patients with autosomal dominant Robinow syndrome. Dev Dyn. 2010 Jan;239(1):327-37. [Content Brief]
[2]. Janson J White, et al. DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome. Am J Hum Genet. 2016 Mar 3;98(3):553-561. [Content Brief]
[3]. Janson J White, et al. WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. Am J Hum Genet. 2018 Jan 4;102(1):27-43. [Content Brief]
[4]. Janson White, et al. DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome. Am J Hum Genet. 2015 Apr 2;96(4):612-22. [Content Brief]
[5]. Juliana Forte Mazzeu, et al. Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome. Am J Med Genet A. 2007 Feb 15;143(4):320-5. [Content Brief]
[6]. M A Patton, et al. Robinow syndrome. J Med Genet. 2002 May;39(5):305-10. [Content Brief]
[7]. S Beiraghi, et al. Craniofacial and intraoral phenotype of Robinow syndrome forms. Clin Genet. 2011 Jul;80(1):15-24. [Content Brief]
[8]. S Mundlos, et al. The brachydactylies: a molecular disease family. Clin Genet. 2009 Aug;76(2):123-36. [Content Brief]
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