| 1 | BDB1, RBNS, ROR2
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| A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes.
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| Schwarzer W, Witte F, Rajab A, Mundlos S, Stricker S.
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| Hum Mol Genet 18(21):4013-21. Epub 2009 Jul 29.PMID: 19640924 2009
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| 2 | RBNS, ROR2
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| Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation.
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| Brunetti-Pierri N, Del Gaudio D, Peters H, Justino H, Ott CE, Mundlos S, Bacino CA.
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| Am J Med Genet A 146A(21):2804-9.
2008
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| 3 | BDB1, RBNS, ROR2
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| The mutation ROR2W749X, linked to human BDB, is a recessive mutation in the mouse, causing brachydactyly, mediating patterning of joints and modeling recessive Robinow syndrome.
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| Raz R, Stricker S, Gazzerro E, Clor JL, Witte F, Nistala H, Zabski S, Pereira RC, Stadmeyer L, Wang X, Gowen L, Sleeman MW, Yancopoulos GD, Canalis E, Mundlos S, Valenzuela DM, Economides AN.
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| Development 135(9):1713-23. Epub 2008 Mar 19.PMID: 18353862 2008
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| 4 | RBNS
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| Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome.
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| Mazzeu JF, Pardono E, Vianna-Morgante AM, Richieri-Costa A, Ae Kim C, Brunoni D, Martelli L, de Andrade CE, Colin G, Otto PA.
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| Am J Med Genet A 143(4):320-5. 2007
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| 5 | ROR2, RBNS
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| Novel Robinow syndrome causing mutations in the proximal region of the frizzled-like domain of ROR2 are retained in the endoplasmic reticulum.
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| Ali BR, Jeffery S, Patel N, Tinworth LE, Meguid N, Patton MA, Afzal AR.
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| Hum Genet 122(3-4):389-95. Epub 2007 Jul 31. 2007
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| 6 | RBNS,ROR2
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| ER-associated protein degradation is a common mechanism underpinning numerous monogenic diseases including Robinow syndrome.
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| Chen Y, Bellamy WP, Seabra MC, Field MC, Ali BR.
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| Hum Mol Genet 14(17):2559-69. Epub 2005 Jul 27. 2005
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| 7 | RBNS
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| Clinical and molecular characterization of two adults with autosomal recessive Robinow syndrome.
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| Tufan F, Cefle K, Turkmen S, Turkmen A, Zorba U, Dursun M, Ozturk S, Palanduz S, Ecder T, Mundlos S, Horn D.
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| Am J Med Genet A 136(2):185-9. 2005
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| 8 | BDB1,RBNS,ROR2
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| One gene, two phenotypes: ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type B.
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| Afzal AR, Jeffery S.
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| Hum Mutat 22(1):1-11. 2003
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| 9 | RBNS,ROR1,ROR2
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| Robinow syndrome.
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| Patton MA, Afzal AR.
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| J Med Genet 39(5):305-10. Review. 2002
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| 10 | RBNS,ROR2
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| Linkage of recessive Robinow syndrome to a 4 cM interval on chromosome 9q22.
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| Afzal AR, Rajab A, Fenske C, Crosby A, Lahiri N, Ternes-Pereira E, Murday VA, Houlston R, Patton MA, Jeffery S.
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| Hum Genet 106(3):351-4. 2000
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| 11 | RBNS,ROR2
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| Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2.
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| Afzal AR, Rajab A, Fenske CD, Oldridge M, Elanko N, Ternes-Pereira E, Tuysuz B, Murday VA, Patton MA, Wilkie AO, Jeffery S.
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| Nat Genet 25(4):419-22. 2000
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| 12 | RBNS, RBNS2
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| Robinow (fetal face) syndrome: report of a boy with dominant type and an infant with recessive type.
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| Kantaputra PN, Gorlin RJ, Ukarapol N, Unachak K, Sudasna J.
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| Am J Med Genet 84(1):1-7.PMID: 10213037 1999
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