| 1 | FFDD3, TWIST2
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| Chromosome 1p36.22p36.21 duplications/triplication causes Setleis syndrome (focal facial dermal dysplasia type III).
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| Weaver DD, Norby AR, Rosenfeld JA, Proud VK, Spangler BE, Ming JE, Chisholm E, Zackai EH, Lee BH, Edelmann L, Desnick RJ.
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| Am J Med Genet A 167A(5):1061-70. doi: 10.1002/ajmg.a.36973. Epub 2015 Feb 27.
2015
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| 2 | FFDD2, FFDD3, TWIST2
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| Setleis syndrome in Mexican-Nahua sibs due to a homozygous TWIST2 frameshift mutation and partial expression in heterozygotes: review of the focal facial dermal dysplasias and subtype reclassification.
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| Cervantes-Barragán DE, Villarroel CE, Medrano-Hernández A, Durán-McKinster C, Bosch-Canto V, Del-Castillo V, Nazarenko I, Yang A, Desnick RJ.
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| J Med Genet 48(10):716-20. doi: 10.1136/jmedgenet-2011-100251.
2011
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| 3 | FFDD3, POSTN, TWIST2
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| Nonsense mutations of the bHLH transcription factor TWIST2 found in Setleis Syndrome patients cause dysregulation of periostin.
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| Franco HL, Casasnovas JJ, Leon RG, Friesel R, Ge Y, Desnick RJ, Cadilla CL.
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| Int J Biochem Cell Biol 43(10):1523-31. doi: 10.1016/j.biocel.2011.07.003. Epub 2011 Jul 27.
2011
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| 4 | FFDD3, TWIST2
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| Homozygous nonsense mutations in TWIST2 cause Setleis syndrome.
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| Tukel T, Sosić D, Al-Gazali LI, Erazo M, Casasnovas J, Franco HL, Richardson JA, Olson EN, Cadilla CL, Desnick RJ.
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| Am J Hum Genet 87(2):289-96.PMID: 20691403 2010
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