| 1 | AKT3, BRWD3, CLOVES, DNMT3A, DNMT3OGS, EZH2, GPC3, HIST1H1E, MCAUTS, MPPH2, MRD35, MRX93, MSMR, MSMS, MTOR, NFIX, NSD1, OGID1, PIK3CA, PPP2R5D, PTEN, SGBS, STOL1, WVSS1, WVSS2
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| Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
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| Tatton-Brown K, Loveday C, Yost S, Clarke M, Ramsay E, Zachariou A, Elliott A, Wylie H, Ardissone A, Rittinger O, Stewart F, Temple IK, Cole T; Childhood Overgrowth Collaboration, Mahamdallie S, Seal S, Ruark E, Rahman N.
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| Am J Hum Genet 100(5):725-736. doi: 10.1016/j.ajhg.2017.03.010. 2017
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| 2 | DEL19P13, MSMS, NFIX, STOL1
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| Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.
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| Malan V, Rajan D, Thomas S, Shaw AC, Louis Dit Picard H, Layet V, Till M, van Haeringen A, Mortier G, Nampoothiri S, Puseljiĉ S, Legeai-Mallet L, Carter NP, Vekemans M, Munnich A, Hennekam RC, Colleaux L, Cormier-Daire V.
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| Am J Hum Genet 87(2):189-98. Epub 2010 Jul 30. 2010
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| 3 | MSMS
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| Marshall-Smith syndrome: Follow-up report of a four and a half year old male.
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| Butler MG.
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| Am J Med Genet A 126A(3):329-30. No abstract available. PMID: 15054853 2004
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| 4 | MSMS
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| Osseous fragility in Marshall-Smith syndrome.
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| Diab M, Raff M, Gunther DF.
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| Am J Med Genet A 119A(2):218-22.PMID: 12749068 2003
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