Article
Haploinsufficiency of MEIS2 is associated with orofacial clefting and learning disability.
American journal of medical genetics. Part A - 1 Jul 2014
Johansson Stefan, Berland Siren, Gradek Gyri Aasland, Bongers Ernie, de Leeuw Nicole, Pfundt Rolph, Fannemel Madeleine, Rødningen Olaug, Brendehaug Atle, Haukanes Bjørn Ivar, Hovland Randi, Helland Gunnar, Houge Gunnar
Abstract excerpt
MEIS2 is a homeodomain-containing transcription factor of the TALE superfamily that has been proven important for development. We confirm and extend a recent single clinical report stating that deletions in MEIS2 can cause cleft palate [Crowley et al. (2010); Am J Med Genet 152A:1326-1327]. Here we report on five additional patients with 15q14 deletions of sizes 0.6, 0.6, 1.0, 1.9, and 4.8 Mb, respectively, all...
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