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Similar articles for PMID: 38673476

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Page 1
Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes.
Türkmen S, Gillessen-Kaesbach G, Meinecke P, Albrecht B, Neumann LM, Hesse V, Palanduz S, Balg S, Majewski F, Fuchs S, Zschieschang P, Greiwe M, Mennicke K, Kreuz FR, Dehmel HJ, Rodeck B, Kunze J, Tinschert S, Mundlos S, Horn D. Türkmen S, et al. Eur J Hum Genet. 2003 Nov;11(11):858-65. doi: 10.1038/sj.ejhg.5201050. Eur J Hum Genet. 2003. PMID: 14571271
The phenotype of Sotos syndrome in adulthood: A review of 44 individuals.
Foster A, Zachariou A, Loveday C, Ashraf T, Blair E, Clayton-Smith J, Dorkins H, Fryer A, Gener B, Goudie D, Henderson A, Irving M, Joss S, Keeley V, Lahiri N, Lynch SA, Mansour S, McCann E, Morton J, Motton N, Murray A, Riches K, Shears D, Stark Z, Thompson E, Vogt J, Wright M, Cole T, Tatton-Brown K. Foster A, et al. Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):502-508. doi: 10.1002/ajmg.c.31738. Epub 2019 Sep 3. Am J Med Genet C Semin Med Genet. 2019. PMID: 31479583 Review.
Spectrum of NSD1 mutations in Sotos and Weaver syndromes.
Rio M, Clech L, Amiel J, Faivre L, Lyonnet S, Le Merrer M, Odent S, Lacombe D, Edery P, Brauner R, Raoul O, Gosset P, Prieur M, Vekemans M, Munnich A, Colleaux L, Cormier-Daire V. Rio M, et al. J Med Genet. 2003 Jun;40(6):436-40. doi: 10.1136/jmg.40.6.436. J Med Genet. 2003. PMID: 12807965 Free PMC article.
The behavioral characteristics of Sotos syndrome.
Sheth K, Moss J, Hyland S, Stinton C, Cole T, Oliver C. Sheth K, et al. Am J Med Genet A. 2015 Dec;167A(12):2945-56. doi: 10.1002/ajmg.a.37373. Epub 2015 Sep 29. Am J Med Genet A. 2015. PMID: 26418839
99 results