Article
Further delineation of the KAT6B molecular and phenotypic spectrum.
European journal of human genetics : EJHG - 1 Sept 2015
Gannon Tamsin, Perveen Rahat, Schlecht Hélene, Ramsden Simon, Anderson Beverley, Kerr Bronwyn, Day Ruth, Banka Siddharth, Suri Mohnish, Berland Siren, Gabbett Michael, Ma Alan, Lyonnet Stan, Cormier-Daire Valerie, Yilmaz Rüstem, Borck Guntram, Wieczorek Dagmar, Anderlid Britt-Marie, Smithson Sarah, Vogt Julie, Moore-Barton Heather, Simsek-Kiper Pelin Ozlem, Maystadt Isabelle, Destrée Anne, Bucher Jessica, Angle Brad, Mohammed Shehla, Wakeling Emma, Price Sue, Singer Amihood, Sznajer Yves, Toutain Annick, Haye Damien, Newbury-Ecob Ruth, Fradin Melanie, McGaughran Julie, Tuysuz Beyhan, Tein Mark, Bouman Katelijne, Dabir Tabib, Van den Ende Jenneke, Luk Ho Ming, Pilz Daniela T, Eason Jacqueline, Davies Sally, Reardon Willie, Garavelli Livia, Zuffardi Orsetta, Devriendt Koen, Armstrong Ruth, Johnson Diana, Doco-Fenzy Martine, Bijlsma Emilia, Unger Sheila, Veenstra-Knol Hermine E, Kohlhase Jürgen, Lo Ivan F M, Smith Janine, Clayton-Smith Jill
Abstract excerpt
KAT6B sequence variants have been identified previously in both patients with the Say-Barber-Biesecker type of blepharophimosis mental retardation syndromes (SBBS) and in the more severe genitopatellar syndrome (GPS). We report on the findings in a previously unreported group of 57 individuals with suggestive features of SBBS or GPS. Likely causative variants have been identified in 34/57 patients and were...
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