| 1 | FLNA, OPD1, OPD2, MLNS, FMTD
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| Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome.
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| Robertson SP.
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| Eur J Hum Genet 15(1):3-9. Epub 2006 Aug 23. 2007
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| 2 | FLNA, OPD1, MLNS
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| Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders.
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| Robertson SP, Thompson S, Morgan T, Holder-Espinasse M, Martinot-Duquenoy V, Wilkie AO, Manouvrier-Hanu S.
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| Eur J Hum Genet 14(5):549-54. 2006
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| 3 | FLNA, OPD1
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| A novel filamin A D203Y mutation in a female patient with otopalatodigital type 1 syndrome and extremely skewed X chromosome inactivation.
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| Hidalgo-Bravo A, Pompa-Mera EN, Kofman-Alfaro S, Gonzalez-Bonilla CR, Zenteno JC.
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| Am J Med Genet A 136(2):190-3. 2005
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| 4 | BPNH, FLNA, FMTD, MLNS , OPD1, OPD2
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| Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.
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| Robertson SP, Twigg SR, Sutherland-Smith AJ, Biancalana V, Gorlin RJ, Horn D, Kenwrick SJ, Kim CA, Morava E, Newbury-Ecob R, Orstavik KH, Quarrell OW, Schwartz CE, Shears DJ, Suri M, Kendrick-Jones J, Wilkie AO; OPD-spectrum Disorders Clinical Collaborative Group.
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| Nat Genet 33(4):487-91. 2003
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| 5 | OPD1
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| Tentative assignment of gene for oto-palato-digital syndrome to distal Xq (Xq26-q28).
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| Hoar DI, et al.
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| Am J Med Genet 42 : 170-172. 1992
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| 6 | OPD1
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| Oto-palato-digital syndrome type I : further evidence for assignment of the locus to Xq28.
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| Biancalana V, et al.
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| Hum Genet 88 : 228-230. 1991
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