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KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants

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第一作者: Kennedy, Joanna
作者单位: Osaka Med Ctr, Dept Med Genet, Osaka, Japan [1] Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, Netherlands [2] Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA [3] UCLA, David Geffen Sch Med, Dept Human Genet, Los Angeles, CA 90095 USA [4] Lady Cilento Childrens Hosp, Child Dev Serv, Brisbane, Qld, Australia [5] Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Melbourne, Vic, Australia [6] Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa, Japan [7] Hunter Genet, Newcastle, NSW, Australia [8] Univ Groningen, Dept Genet, Groningen, Netherlands [9] NHGRI, NIH, Bethesda, MD 20892 USA [10] Ninewells Hosp & Med Sch, Clin Genet, Dundee, Scotland [11] CHU Nantes, Serv Genet Med, Nantes, France [12] Mater Grp, Mol Diagnost, South Brisbane, Qld, Australia [13] Cent Manchester Fdn NHS Trust, St Marys Hosp, Manchester Acad Hlth Sci Ctr, Manchester Ctr Genom [14] Queen Elizabeth Univ Hosp, West Scotland Genet Serv, Glasgow, Lanark, Scotland [15] Mayo Clin, Ctr Individualized Med, Rochester, MN USA [16] Leiden Univ, Klin Genet, Leiden, Netherlands [17] Oxford Univ Hosp NHS Fdn Trust, Oxford Ctr Genom Med, Oxford, England [18] Genet Hlth Queensland, Brisbane, Qld, Australia [19] Acad Med Ctr, Dept Clin Genet, Amsterdam, Netherlands [20] Our Ladys Childrens Hosp, Dept Clin Genet, Dublin, Ireland [21] Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USA [22] Liverpool Womens NHS Fdn Trust, Cheshire & Merseyside Reg Genet Serv, Crown St, Liverpool [23] Clin Genet Guys & St Thomas NHS Fdn Trust, Guys Hosp, London, England [24] Vrije Univ Amsterdam Med Ctr, Klin Geneticus, Amsterdam, Netherlands [25] Oslo Univ Hosp, Dept Med Genet, Oslo, Norway [26] Stanford Univ, Dept Pediat, Div Med Genet, Stanford, CA 94305 USA [27] Southmead Hosp, Bristol Genet Lab, Bristol, Avon, England [28] Univ Hosp Bristol, Clin Genet, Southwell St, Bristol, Avon, England [29] Addenbrookes Hosp, East Anglian Med Genet Serv, Cambridge, England [30] Leiden Univ, Dept Clin Genet, Med Ctr, Leiden, Netherlands [31] Great Ormond St Hosp NHS Trust, Clin Genet, London, England [32]
发布时间 2019-11-14
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Genetics in medicine

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