Further delineation of the KAT6B molecular and phenotypic spectrum

Autor: DDD study, 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 FM, Smith, Janine, Clayton-Smith, Jill

Publikováno v: European Journal of Human Genetics, 23(9), 1165-1170
European journal of human genetics: EJHG
European journal of human genetics: EJHG, 2015, 23 (9), pp.1165--1170. 〈10.1038/ejhg.2014.248〉
European Journal of Human Genetics, 23(9), 1165-1170. Nature Publishing Group
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2015, 23 (9), pp.1165--1170. ⟨10.1038/ejhg.2014.248⟩
European Journal of Human Genetics, Vol. 23, no. 9, p. 1165-1170 (2015)
European Journal of Human Genetics, 2015, 23 (9), pp.1165--1170. ⟨10.1038/ejhg.2014.248⟩
European Journal of Human Genetics : Ejhg, vol. 23, no. 9, pp. 1165-1170

International audience; 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 repor

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69bf0e66d65c9ab48797e8d72e517dd8
https://www.ncbi.nlm.nih.gov/pubmed/25424711

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Rehabilitation of knee meniscus injury with associated malacia of the patella.

Autor: LANNIN DR

Publikováno v: Journal of the American Medical Association [J Am Med Assoc] 1959 Nov 21; Vol. 171, pp. 1662-4.