autosomal rezessives Robinow-Syndrom
Das autosomal rezessive Robinow-Syndrom ist eine angeborene Knochenerkrankung, die durch Mutationen im ROR2-Gen hervorgerufen wird. Sie ist durch Kleinwuchs aufgrund verkürzter Extremitäten, costovertebrale Segmentierungsdefekte und verschiedene Abnormalitäten des Gesichtsschädels, der äußeren Genitale und Nieren gekennzeichnet.
Gliederung
Referenzen:
1. |
Afzal AR et. al. (2000) Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2. [^] |
2. |
van Bokhoven H et. al. (2000) Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome. [^] |
3. |
Schwabe GC et. al. (2000) Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B. [^] |
4. |
Schwabe GC et. al. (2004) Ror2 knockout mouse as a model for the developmental pathology of autosomal recessive Robinow syndrome. [^] |
5. |
Tufan F et. al. (2005) Clinical and molecular characterization of two adults with autosomal recessive Robinow syndrome. [^] |
6. |
Brunetti-Pierri N et. al. (2008) Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation. [^] |
7. |
Schwarzer W et. al. (2009) A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes. [^] |
8. |
Nazer H et. al. (1990) Concurrence of Robinow syndrome and Crigler-Najar syndrome in two offspring of first cousins. [^] |
9. |
Baxová A et. al. (1989) [2 cases of Robinow's syndrome with mental retardation]. [^] |
10. |
Bain MD et. al. (1986) Robinow syndrome without mesomelic 'brachymelia': a report of five cases. [^] |
11. |
Wadlington WB et. al. (1973) Mesomelic dwarfism with hemivertebrae and small genitalia (the Robinow syndrome). [^] |
12. |
Mazzeu JF et. al. (2007) Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome. [^] |
13. |
Beiraghi S et. al. (2011) Craniofacial and intraoral phenotype of Robinow syndrome forms. [^] |
14. |
None (1979) Covesdem syndrome. [^] |
15. |
Wadia RS et. al. (1978) Recessively inherited costovertebral segmentation defect with mesomelia and peculiar facies (Covesdem syndrome): A new genetic entity? [^] |
16. |
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17. |
None (1990) Autosomal recessive Robinow syndrome. [^] |
18. |
Glaser D et. al. (1989) Robinow syndrome with parental consanguinity. [^] |
19. |
Saal HM et. al. (1988) Autosomal recessive Robinow-like syndrome with anterior chamber cleavage anomalies. [^] |
20. |
None (1987) Comment on COVESDEM syndrome. [^] |
21. |
Aymé S et. al. (1986) Spondylocostal/spondylothoracic dysostosis: the clinical basis for prognosticating and genetic counseling. [^] |
22. |
Balci S et. al. (1993) Robinow syndrome: with special emphasis on dermatoglyphics and hand malformations (split hand). [^] |
23. |
Sabry MA et. al. (1997) Unusual traits associated with Robinow syndrome. [^] |
24. |
Akşit S et. al. (1997) Is the frequency of Robinow syndrome relatively high in Turkey? Four more case reports. [^] |
25. |
Balci S et. al. (1998) Robinow syndrome, vaginal atresia, hematocolpos, and extra middle finger. [^] |
26. |
Soliman AT et. al. (1998) Recessive Robinow syndrome: with emphasis on endocrine functions. [^] |
27. |
Afzal AR et. al. (2000) Linkage of recessive Robinow syndrome to a 4 cM interval on chromosome 9q22. [^] |