DVL3

Publications

Patton MA, Afzal AR. Robinow syndrome. J Med Genet 2002;39:305–310. PMID: 12011143.

Bain MD, Winter RM & Burn J. Robinow syndrome without mesomelic 'brachymelia': a report of five cases. J Med Genet. 1986;23:350–4. PMID: 3746837.

Danyel M et al. Autosomal dominant Robinow syndrome associated with a novel DVL3 splice mutation. American Journal of Medical Genetics 2018; Part A, 176(4), 992–996. PMID: 29575616.

Mazzeu JF et al. Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome. Am J Med Genet A. 2007;143:320–5. PMID: 17256787.

Rai A et al. Clinical and molecular characterization of four patients with Robinow syndrome from different families. Am J Med Genet A. 2021 Apr;185(4):1105-1112. PMID: 33496066.

White JJ et al. WNT signaling perturbations underlie the genetic heterogeneity of Robinow syndrome. The American Journal of Human Genetics. 2018 Jan 4;102(1):27-43. PMID: 29276006.

White J et al. DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome. The American Journal of Human Genetics. 2015 Apr 2;96(4):612-22. PMID: 25817016.

Zhang C et al. Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability. HGG Adv. 2021 Dec 3;3(1):100074. PMID: 35047859.

Zhang Y et al. Obstetrical Challenges in Robinow Syndrome. Case Rep Obstet Gynecol. 2022 Jul 22; 2022:6481517. PMID: 35909981.