Autosomal recessive Robinow syndrome

Afzal AR et al. (2000) Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2.

Afzal AR et al. (2000) Linkage of recessive Robinow syndrome to a 4 cM interval on chromosome 9q22.

Soliman AT et al. (1998) Recessive Robinow syndrome: with emphasis on endocrine functions.

Balci S et al. (1998) Robinow syndrome, vaginal atresia, hematocolpos, and extra middle finger.

Akşit S et al. (1997) Is the frequency of Robinow syndrome relatively high in Turkey? Four more case reports.

Sabry MA et al. (1997) Unusual traits associated with Robinow syndrome.

Balci S et al. (1993) Robinow syndrome: with special emphasis on dermatoglyphics and hand malformations (split hand).

Aymé S et al. (1986) Spondylocostal/spondylothoracic dysostosis: the clinical basis for prognosticating and genetic counseling.

None (1987) Comment on COVESDEM syndrome.

Saal HM et al. (1988) Autosomal recessive Robinow-like syndrome with anterior chamber cleavage anomalies.

Glaser D et al. (1989) Robinow syndrome with parental consanguinity.

None (1990) Autosomal recessive Robinow syndrome.

Schorderet DF et al. (1992) Robinow syndrome in two siblings from consanguineous parents.

Wadia RS et al. (1978) Recessively inherited costovertebral segmentation defect with mesomelia and peculiar facies (Covesdem syndrome): A new genetic entity?

None (1979) Covesdem syndrome.

Beiraghi S et al. (2011) Craniofacial and intraoral phenotype of Robinow syndrome forms.

Mazzeu JF et al. (2007) Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome.

Wadlington WB et al. (1973) Mesomelic dwarfism with hemivertebrae and small genitalia (the Robinow syndrome).

Bain MD et al. (1986) Robinow syndrome without mesomelic 'brachymelia': a report of five cases.

Baxová A et al. (1989) [2 cases of Robinow's syndrome with mental retardation].

Nazer H et al. (1990) Concurrence of Robinow syndrome and Crigler-Najar syndrome in two offspring of first cousins.

Schwarzer W et al. (2009) A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes.

Brunetti-Pierri N et al. (2008) Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation.

Tufan F et al. (2005) Clinical and molecular characterization of two adults with autosomal recessive Robinow syndrome.

Schwabe GC et al. (2004) Ror2 knockout mouse as a model for the developmental pathology of autosomal recessive Robinow syndrome.

van Bokhoven H et al. (2000) Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome.

Schwabe GC et al. (2000) Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B.

OMIM.ORG article

Orphanet article

Wikipedia article