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The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant

Lookup NU author(s): Dr Miranda Splitt

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Author(s): Koolen DA, Pfundt R, Linda K, Beunders G, Veenstra-Knol HE, Conta JH, Fortuna AM, Gillessen-Kaesbach G, Dugan S, Halbach S, Abdul-Rahman OA, Winesett HM, Chung WK, Dalton M, Dimova PS, Mattina T, Prescott K, Zhang HZ, Saal HM, Hehir-Kwa JY, Willemsen MH, Ockeloen CW, Jongmans MC, Van der Aa N, Failla P, Barone C, Avola E, Brooks AS, Kant SG, Gerkes EH, Firth HV, Ounap K, Bird LM, Masser-Frye D, Friedman JR, Sokunbi MA, Dixit A, Splitt M, Kukolich MK, McGaughran J, Coe BP, Florez J, Kasri NN, Brunner HG, Thompson EM, Gecz J, Romano C, Eichler EE, de Vries BBA, DDD Study

Publication type: Article

Journal: European Journal of Human Genetics

Year: 2016

Volume: 24

Issue: 5

Pages: 652-659

Acceptance date: 01/01/1900

Print publication date: 01/05/2016

ISSN (print): 1018-4813

ISSN (electronic): 1476-5438

Publisher: Nature Publishing Group

URL: http://dx.doi.org/10.1038/ejhg.2015.178

DOI: 10.1038/ejhg.2015.178


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