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De novo and biallelic DEAF1 variants cause a phenotypic spectrum

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第一作者: Sa, Maria J. Nabais
作者单位: Univ Rennes, CHU Rennes, CLAD Ouest, IGDR,Serv Genet Clin,CNRS 6290, Rennes, France [1] Ninewells Hosp & Med Sch, Dept Clin Genet, Dundee, Angus, Scotland [2] Schneider Childrens Med Ctr Israel, Pediat Genet Clin, Petah Tiqwa, Israel [3] Univ Amsterdam, Med Ctr, Dept Pediat, Amsterdam, Netherlands [4] UCLA, David Geffen Sch Med, Dept Human Genet, Los Angeles, CA 90095 USA [5] Univ Calif Davis, Sch Med, MIND Inst, Sacramento, CA 95817 USA [6] Sydney Childrens Hosp, Randwick, NSW, Australia [7] Univ London, St Georges Univ Hosp NHS Fdn Trust & St Georges, Dept Clin Genet, London, England [8] Seattle Childrens Hosp, Div Genet Med, Seattle, WA USA [9] Univ Washington, Dept Pediat, Div Genet Med, Seattle, WA 98195 USA [10] Univ Rennes, CHU Rennes, CNRS, IGDR,UMR 6290, Rennes, France [11] Cortica Healthcare, Dept Child Neurol, San Rafael, CA USA [12] Newcastle Upon Tyne Hosp NHS Fdn Trust, Northern Genet Serv, Newcastle Upon Tyne, Tyne & Wear [13] St Georges Univ London, Genet Res Ctr, Mol & Clin Sci Inst, London, England [14] Brown Univ, Hasbro Childrens Hosp, Warren Alpert Med Sch, Dept Pediat,Div Human Genet, Providence [15] Southern Illinois Univ, Sch Med, Dept Physiol, Carbondale, IL USA [16] Hop Necker Enfants Malad, INSERM UMR 1163, Assistance Publ, Dept Genet,Inst Imagine, Paris, France [17] Hop La Pitie Salpetriere, AP HP, Dept Genet, Paris, France [18] Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands [19] Agostino Gemelli Catholic Univ Sacred Heart, Fac Med, Rome, Italy [20] Ludwig Konrad Str 14, Bad Wildungen, Germany [21] OPD2 Northern Gen Hosp, Sheffield Clin Genet Serv, Sheffield, S Yorkshire, England [22] George Washington Univ, Sch Med & Hlth Sci, GW Inst Neurosci, Dept Pharmacol & Physiol, Washington [23] Nottingham Univ Hosp NHS Trust, Dept Clin Genet, Nottingham, England [24] Univ Med Ctr Utrecht, Dept Genet, Utrecht, Netherlands [25] Dartmouth Geisel Sch Med, Hanover, NH USA [26] Cedars Sinai Med Ctr, Dept Neurol, Dept Pediat, Los Angeles, CA 90048 USA [27] Cedars Sinai Med Ctr, Dept Pediat, Div Clin Genet & Dysmorphol, Los Angeles, CA 90048 USA [28]
发布时间 2020-11-17
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Genetics in medicine

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