| 1 | BDB1, RBNS2, ROR2, VANGL2, WNT5A
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| Disruption of PCP signaling causes limb morphogenesis and skeletal defects and may underlie Robinow syndrome and brachydactyly type B.
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| Wang B, Sinha T, Jiao K, Serra R, Wang J.
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| Hum Mol Genet 20(2):271-85. Epub 2010 Oct 20.
2011
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| 2 | BDB1, ROR2
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| A novel single-base deletion in ROR2 causes atypical brachydactyly type B1 with cutaneous syndactyly in a large Chinese family.
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| Lv D, Luo Y, Yang W, Cao L, Wen Y, Zhao X, Sun M, Lo WH, Zhang X.
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| J Hum Genet 54(7):422-5. Epub 2009 May 22.
2009
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| 3 | 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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| 4 | 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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| 5 | BDB1, ROR2
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| Brachydactyly type B1: report of a family with de novo ROR2 mutation.
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| Hamamy H, Saleh N, Oldridge M, Al-Hadidy A, Ajlouni K.
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| Clin Genet 70(6):538-40. No abstract available. 2006
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| 6 | 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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| 7 | BDB1, ROR2
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| Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B.
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| Oldridge M, M Fortuna A, Maringa M, Propping P, Mansour S, Pollitt C, DeChiara TM, Kimble RB, Valenzuela DM, Yancopoulos GD, Wilkie AO.
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| Nat Genet 24(3):275-8. No abstract available. 2000
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| 8 | BDB1, ROR2
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| Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B.
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| Schwabe GC, Tinschert S, Buschow C, Meinecke P, Wolff G, Gillessen-Kaesbach G, Oldridge M, Wilkie AO, Komec R, Mundlos S.
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| Am J Hum Genet 67(4):822-31. 2000
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| 9 | BDB1
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| Brachydactyly type B: linkage to chromosome 9q22 and evidence for genetic heterogeneity.
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| Oldridge M, et al.
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| Am J Hum Genet 64(2):578-85. 1999
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| 10 | BDB1
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| Brachydactyly Type B: Clinical Description, Genetic Mapping to Chromosome 9q, and Evidence for a Shared Ancestral Mutation.
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| Gong Y, et al.
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| Am J Hum Genet 64(2):570-577. 1999
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