Article
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.
Clinical genetics - 1 Dec 2013
Makrythanasis P, van Bon B W, Steehouwer M, Rodríguez-Santiago B, Simpson M, Dias P, Anderlid B M, Arts P, Bhat M, Augello B, Biamino E, Bongers E M H F, Del Campo M, Cordeiro I, Cueto-González A M, Cuscó I, Deshpande C, Frysira E, Izatt L, Flores R, Galán E, Gener B, Gilissen C, Granneman S M, Hoyer J, Yntema H G, Kets C M, Koolen D A, Marcelis C l, Medeira A, Micale L, Mohammed S, de Munnik S A, Nordgren A, Psoni S, Reardon W, Revencu N, Roscioli T, Ruiterkamp-Versteeg M, Santos H G, Schoumans J, Schuurs-Hoeijmakers J H M, Silengo M C, Toledo L, Vendrell T, van der Burgt I, van Lier B, Zweier C, Reymond A, Trembath R C, Perez-Jurado L, Dupont J, de Vries B B A, Brunner H G, Veltman J A, Merla G, Antonarakis S E, Hoischen A
Abstract excerpt
Recently, pathogenic variants in the MLL2 gene were identified as the most common cause of Kabuki (Niikawa-Kuroki) syndrome (MIM#147920). To further elucidate the genotype-phenotype correlation, we studied a large cohort of 86 clinically defined patients with Kabuki syndrome (KS) for mutations in...
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