ROR2

Publications

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

Conlon CJ et al. Craniofacial phenotypes associated with Robinow syndrome. Am J Med Genet A. 2021;185(12):3606-3612. DOI: 10.1002/ajmg.a.61986. PMID: 33237614.

Mazzeu JF et al. Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome. Am J Med Genet A. 2007;143(4):320–5. DOI: 10.1002/ajmg.a.31592. PMID: 17256787.

Malik S et al. A homozygous ROR2 variant in a family with atypical Robinow syndrome and tetramelic transverse deficiency of autopods. Am J Med Genet A. 2022;188(1):343-349. DOI: 10.1002/ajmg.a.62514. PMID: 34569147.

Patton MA et al. Robinow 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.

Schwartz DD et al. Neurocognitive, adaptive, and psychosocial functioning in individuals with Robinow syndrome. Am J Med Genet A. 2021;185(12):3576-3583. DOI: 10.1002/ajmg.a.61854. PMID: 32954672.

Van Bokhoven H et al. Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome. Nat Genet. 2000;25(4):423-426. DOI: 10.1038/78113. PMID: 10932187. 

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.