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.
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28. |
OMIM.ORG article Omim 268310 |
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Orphanet article Orphanet ID 1507 |