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Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males.
Van Esch H, Bauters M, Ignatius J, Jansen M, Raynaud M, Hollanders K, Lugtenberg D, Bienvenu T, Jensen LR, Gecz J, Moraine C, Marynen P, Fryns JP, Froyen G. Van Esch H, et al. Among authors: gecz j. Am J Hum Genet. 2005 Sep;77(3):442-53. doi: 10.1086/444549. Epub 2005 Jul 29. Am J Hum Genet. 2005. PMID: 16080119 Free PMC article.
Mutation detection in FGFR2 craniosynostosis syndromes.
Hollway GE, Suthers GK, Haan EA, Thompson E, David DJ, Gecz J, Mulley JC. Hollway GE, et al. Among authors: gecz j. Hum Genet. 1997 Feb;99(2):251-5. doi: 10.1007/s004390050348. Hum Genet. 1997. PMID: 9048930
FMR2 expression in families with FRAXE mental retardation.
Gécz J, Oostra BA, Hockey A, Carbonell P, Turner G, Haan EA, Sutherland GR, Mulley JC. Gécz J, et al. Hum Mol Genet. 1997 Mar;6(3):435-41. doi: 10.1093/hmg/6.3.435. Hum Mol Genet. 1997. PMID: 9147647
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