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. |
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| 10. |
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| 11. |
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| 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. |
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| 17. |
None (1990) Autosomal recessive Robinow syndrome. [^] |
| 18. |
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| 19. |
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| 20. |
None (1987) Comment on COVESDEM syndrome. [^] |
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| 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. [^] |
