| 1 | FLNA, OPD2
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| Skeletal dysplasias due to filamin A mutations result from a gain-of-function mechanism distinct from allelic neurological disorders.
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| Clark AR, Sawyer GM, Robertson SP, Sutherland-Smith AJ.
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| Hum Mol Genet 18(24):4791-800. Epub 2009 Sep 22.PMID: 19773341 2009
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| 2 | 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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| 3 | FLNA,OPD2
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| Otopalatodigital syndrome type 2 in two siblings with a novel filamin A 629G>T mutation: clinical, pathological, and molecular findings.
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| Marino-Enriquez A, Lapunzina P, Robertson SP, Rodriguez JI.
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| Am J Med Genet A 143(10):1120-5. 2007
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| 4 | FLNA, OPD2
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| A novel 9 bp deletion in the filamin a gene causes an otopalatodigital-spectrum disorder with a variable, intermediate phenotype.
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| Stefanova M, Meinecke P, Gal A, Bolz H.
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| Am J Med Genet A 132(4):386-90. 2005
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| 5 | AIC, AXR2, CCA, CDG1D, DHOF, DPYD, HPE2, JBTS1, MCIA, MCOPCB2, MKS1, MRXS28, NBCCS2, NS1, OFCD, ONCR, OOD1, OPD2, RBP4, RIEG1, RSTS, TCOF1, WLKWS1, ZEB2
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| Ocular coloboma: a reassessment in the age of molecular neuroscience.
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| Gregory-Evans CY, Williams MJ, Halford S, Gregory-Evans K.
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| J Med Genet 41(12):881-91. 2004
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| 6 | 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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| 7 | OPD2
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| Linkage of otopalatodigital syndrome type 2 (OPD2) to distal Xq28: evidence for allelism with OPD1.
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| Robertson SP, Walsh S, Oldridge M, Gunn T, Becroft D, Wilkie AO.
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| Am J Hum Genet 69(1):223-7. 2001
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| 8 | FMTD, MLNS, OPD2
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| Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia.
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| Verloes A, Lesenfants S, Barr M, Grange DK, Journel H, Lombet J, Mortier G, Roeder E.
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| Am J Med Genet 90(5):407-22. 2000
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