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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. Among authors: hesse v. Eur J Hum Genet. 2003 Nov;11(11):858-65. doi: 10.1038/sj.ejhg.5201050. Eur J Hum Genet. 2003. PMID: 14571271
Three novel missense mutations within the LHX4 gene are associated with variable pituitary hormone deficiencies.
Pfaeffle RW, Hunter CS, Savage JJ, Duran-Prado M, Mullen RD, Neeb ZP, Eiholzer U, Hesse V, Haddad NG, Stobbe HM, Blum WF, Weigel JF, Rhodes SJ. Pfaeffle RW, et al. Among authors: hesse v. J Clin Endocrinol Metab. 2008 Mar;93(3):1062-71. doi: 10.1210/jc.2007-1525. Epub 2007 Dec 11. J Clin Endocrinol Metab. 2008. PMID: 18073311 Free PMC article.
[Current problems in pediatric endocrinology].
Amendt P, Hesse V, Hinkel GK, Hoepffner W, Mohnike K, Willgerodt H. Amendt P, et al. Among authors: hesse v. Z Arztl Fortbild (Jena). 1986;80(20):839-47. Z Arztl Fortbild (Jena). 1986. PMID: 3811424 German. No abstract available.
157 results