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Acromesomelic dysplasia Maroteaux type maps to human chromosome 9.
Kant SG, Polinkovsky A, Mundlos S, Zabel B, Thomeer RT, Zonderland HM, Shih L, van Haeringen A, Warman ML. Kant SG, et al. Among authors: mundlos s. Am J Hum Genet. 1998 Jul;63(1):155-62. doi: 10.1086/301917. Am J Hum Genet. 1998. PMID: 9634515 Free PMC article.
Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2.
Lehmann K, Seemann P, Stricker S, Sammar M, Meyer B, Süring K, Majewski F, Tinschert S, Grzeschik KH, Müller D, Knaus P, Nürnberg P, Mundlos S. Lehmann K, et al. Among authors: mundlos s. Proc Natl Acad Sci U S A. 2003 Oct 14;100(21):12277-82. doi: 10.1073/pnas.2133476100. Epub 2003 Oct 1. Proc Natl Acad Sci U S A. 2003. PMID: 14523231 Free PMC article.
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: mundlos s. Eur J Hum Genet. 2003 Nov;11(11):858-65. doi: 10.1038/sj.ejhg.5201050. Eur J Hum Genet. 2003. PMID: 14571271
Acropectorovertebral dysgenesis (F syndrome) maps to chromosome 2q36.
Thiele H, McCann C, van't Padje S, Schwabe GC, Hennies HC, Camera G, Opitz J, Laxova R, Mundlos S, Nürnberg P. Thiele H, et al. Among authors: mundlos s. J Med Genet. 2004 Mar;41(3):213-8. doi: 10.1136/jmg.2003.014894. J Med Genet. 2004. PMID: 14985386 Free PMC article. No abstract available.
404 results