| 1 | FLNA, MLNS
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| Mutational analysis of two boys with the severe perinatally lethal Melnick-Needles syndrome.
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| Santos HH, Garcia PP, Pereira L, Lećo LL, Aguiar RA, Lana AM, Carvalho MR, Aguiar MJ.
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| Am J Med Genet A 152A(3):726-31.PMID: 20186808 2010
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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, 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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| 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 | 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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