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Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contractures.
Thevenon, Julien; Monnier, Nicole; Callier, Patrick; Dieterich, Klaus; Francoise, Michel; Montgomery, Tara; Kjaergaard, Susanne; Neas, Katherine; Dixon, Joanne; Dahm, Thomas Lee; Huet, Frédéric; Ragon, Clémence; Mosca-Boidron, Anne-Laure; Marle, Nathalie; Duplomb, Laurence; Aubriot-Lorton, Marie-Hélène; Mugneret, Francine; Vokes, Steve A; Tucker, Haley W; Lunardi, Joël; Faivre, Laurence; Jouk, Pierre Simon; Thauvin-Robinet, Christel.
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  • Thevenon J; Fédération Hospitalo-Universitaire TRANSLAD et Centre de Génétique et Centre de Référence «Anomalies du Développement et Syndromes Malformatifs¼ du Grand Est, Hôpital d'Enfants, CHU Dijon, Dijon, France; Université de Bourgogne, Dijon, France.
Am J Med Genet A ; 164A(12): 3027-34, 2014 Dec.
Article in En | MEDLINE | ID: mdl-25258245
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Arthrogryposis / Chromosomes, Human, Pair 3 / Chromosome Aberrations / Contracture / Extremities Type of study: Risk_factors_studies Limits: Animals / Female / Humans / Male Country/Region as subject: Europa Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2014 Document type: Article Affiliation country: Country of publication:
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Arthrogryposis / Chromosomes, Human, Pair 3 / Chromosome Aberrations / Contracture / Extremities Type of study: Risk_factors_studies Limits: Animals / Female / Humans / Male Country/Region as subject: Europa Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2014 Document type: Article Affiliation country: Country of publication: