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Autosomal recessive Robinow syndrome: a case report.
Grothe R, Anderson-Cermin C, Beiraghi S. Grothe R, et al. J Dent Child (Chic). 2008 Jan-Apr;75(1):48-54. J Dent Child (Chic). 2008. PMID: 18505648
This paper describes the clinical findings and dental management over the course of 4 years of a US-born Caucasian female with recessive Robinow syndrome who presented to our dental clinic at age 11 years, 0 months and who is now age 15 years, 3 months. ...
This paper describes the clinical findings and dental management over the course of 4 years of a US-born Caucasian female with recess …
Robinow syndrome in an extremely preterm infant: Novel homozygous ROR2 variant detected by rapid exome sequencing.
McDermott H, Robinson HK, Caswell R, Gowda H, Offiah A, Naik S. McDermott H, et al. Am J Med Genet A. 2022 Jan;188(1):298-303. doi: 10.1002/ajmg.a.62499. Epub 2021 Sep 24. Am J Med Genet A. 2022. PMID: 34558814
(Tyr317Cys), for which both parents were heterozygous carriers. In-silico protein modeling predicted a deleterious effect on the function of the protein. We report an extreme premature infant with novel homozygous likely pathogenic variant in the ROR2 gene consistent with …
(Tyr317Cys), for which both parents were heterozygous carriers. In-silico protein modeling predicted a deleterious effect on the func …
Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome.
van Bokhoven H, Celli J, Kayserili H, van Beusekom E, Balci S, Brussel W, Skovby F, Kerr B, Percin EF, Akarsu N, Brunner HG. van Bokhoven H, et al. Nat Genet. 2000 Aug;25(4):423-6. doi: 10.1038/78113. Nat Genet. 2000. PMID: 10932187
The ROR2 mutations present in RRS result in premature stop codons and predict nonfunctional proteins....
The ROR2 mutations present in RRS result in premature stop codons and predict nonfunctional proteins....
Whole-exome sequencing identified compound heterozygous variants in ROR2 gene in a fetus with Robinow syndrome.
Yang K, Zhu J, Tan Y, Sun X, Zhao H, Tang G, Zhang D, Qi H. Yang K, et al. J Clin Lab Anal. 2020 Feb;34(2):e23074. doi: 10.1002/jcla.23074. Epub 2019 Oct 16. J Clin Lab Anal. 2020. PMID: 31617258 Free PMC article.
RESULTS: A compound heterozygous variation consisting c.613C > T and c.904C > T in ROR2 gene was identified. In silico prediction suggested that c.904C > T was a deleterious variant. IHC result demonstrated that ror2 expression level of the proband in osteochondra …
RESULTS: A compound heterozygous variation consisting c.613C > T and c.904C > T in ROR2 gene was identified. In silico prediction …
A novel single-base deletion in ROR2 causes atypical brachydactyly type B1 with cutaneous syndactyly in a large Chinese family.
Lv D, Luo Y, Yang W, Cao L, Wen Y, Zhao X, Sun M, Lo WH, Zhang X. Lv D, et al. J Hum Genet. 2009 Jul;54(7):422-5. doi: 10.1038/jhg.2009.48. Epub 2009 May 22. J Hum Genet. 2009. PMID: 19461659
We identified a novel single-base deletion in ROR2, c.2243delC (p.W749fsX24), and confirmed its segregation with the limb phenotype in the family. This deletion is predicted to produce a truncated ROR2 protein with an additional C-terminal polypeptide of 24 amino-acid resi …
We identified a novel single-base deletion in ROR2, c.2243delC (p.W749fsX24), and confirmed its segregation with the limb phenotype in the f …