| 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, FMTD
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| Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia.
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| Zenker M, Nahrlich L, Sticht H, Reis A, Horn D.
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| Am J Med Genet A 140(10):1069-73. 2006
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| 3 | FLNA, FMTD
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| Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity.
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| Robertson SP, Jenkins ZA, Morgan T, Ades L, Aftimos S, Boute O, Fiskerstrand T, Garcia-Minaur S, Grix A, Green A, Der Kaloustian V, Lewkonia R, McInnes B, van Haelst MM, Macini G, Illes T, Mortier G, Newbury-Ecob R, Nicholson L, Scott CI, Ochman K, Brozek I, Shears DJ, Superti-Furga A, Suri M, Whiteford M, Wilkie AO, Krakow D.
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| Am J Med Genet A 140(16):1726-36. 2006
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| 4 | FLNA, FMTD, BPNH
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| A dual phenotype of periventricular nodular heterotopia and frontometaphyseal dysplasia in one patient caused by a single FLNA mutation leading to two functionally different aberrant transcripts.
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| Zenker M, Rauch A, Winterpacht A, Tagariello A, Kraus C, Rupprecht T, Sticht H, Reis A.
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| Am J Hum Genet 74(4):731-7. Epub 2004 Feb 25. 2004
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| 5 | 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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| 6 | 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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| 7 | FLNA, FMTD
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| Fronto-metaphyseal dysplasia. A progressive disease of bone and connective tissue.
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| Danks DM, Mayne V, Hall RK, McKinnon MC.
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| Am J Dis Child 123(3):254-8. No abstract available. 1972
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