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Robinow syndrome.
Patton MA, Afzal AR. Patton MA, et al. J Med Genet. 2002 May;39(5):305-10. doi: 10.1136/jmg.39.5.305. J Med Genet. 2002. PMID: 12011143 Free PMC article. Review.
Over 100 cases have now been reported and we have reviewed the current knowledge of the clinical and genetic features of the syndrome. The gene for the autosomal recessive form was identified as the ROR2 gene on chromosome 9q22. ROR2 is a receptor tyrosine kinase wi …
Over 100 cases have now been reported and we have reviewed the current knowledge of the clinical and genetic features of the syndrome. The g …
Robinow syndrome: report of two patients and review of literature.
Butler MG, Wadlington WB. Butler MG, et al. Clin Genet. 1987 Feb;31(2):77-85. doi: 10.1111/j.1399-0004.1987.tb02773.x. Clin Genet. 1987. PMID: 3549067 Free PMC article. Review.
Early death was identified in about 10% of the cases. Genetic heterogeneity is suggested with autosomal dominant inheritance reported in 8 individuals from 3 families and autosomal recessive inheritance in 8 siblings from 4 families although no clinical diffe …
Early death was identified in about 10% of the cases. Genetic heterogeneity is suggested with autosomal dominant inheritance reported …
Tomographic Study of the Malformation Complex in Correlation With the Genotype in Patients With Robinow Syndrome: Review Article.
Kaissi AA, Kenis V, Shboul M, Grill F, Ganger R, Kircher SG. Kaissi AA, et al. J Investig Med High Impact Case Rep. 2020 Jan-Dec;8:2324709620911771. doi: 10.1177/2324709620911771. J Investig Med High Impact Case Rep. 2020. PMID: 32172608 Free PMC article. Review.
We aimed to understand the etiology behind the abnormal craniofacial contour and other clinical presentations in a number of children with Robinow syndrome. Seven children with Robinow syndrome were enrolled in this study (autosomal recessive …
We aimed to understand the etiology behind the abnormal craniofacial contour and other clinical presentations in a number of children with …