DVL1

Publications

Bain MD et al.  Robinow syndrome without mesomelic 'brachymelia': a report of five cases. J Med Genet. 1986;23(4):350–4. DOI: 10.1136/jmg.23.4.350. PMID: 3746837.

Mazzeu JF et al. Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome. Am J Med Genet A. 2007;143(3):320–5. DOI: 10.1002/ajmg.a.31592. PMID: 17256787. 

Patton MA et alRobinow syndrome. J Med Genet. 2002;39(5):305–310. DOI: 10.1136/jmg.39.5.305. PMID: 12011143.

Rai A et al. Clinical and molecular characterization of four patients with Robinow syndrome from different families. Am J Med Genet A. 2021;185(4):1105-1112. doi: 10.1002/ajmg.a.62082. PMID: 33496066.

Zhang C et al. Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability. HGG Adv. 2021;3(1):100074. DOI: 10.1016/j.xhgg.2021.100074. PMID: 35047859.