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Prenatal diagnosis of CHARGE syndrome by identification of a novel CHD7 mutation in a previously unaffected family.
Colin, Estelle; Bonneau, Dominique; Boussion, Francoise; Guichet, Agnès; Delorme, Benoit; Triau, Stéphane; Gillard, Phillippe; Kitzis, Alain; Bilan, Frederic.
Prenat Diagn ; 32(7): 692-4, 2012 Jul.
Article in En | MEDLINE | ID: mdl-22517486
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: DNA Helicases / DNA-Binding Proteins / CHARGE Syndrome Type of study: Diagnostic_studies / Prognostic_studies Limits: Adult / Female / Humans / Pregnancy Language: En Journal: Prenat Diagn Year: 2012 Document type: Article
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: DNA Helicases / DNA-Binding Proteins / CHARGE Syndrome Type of study: Diagnostic_studies / Prognostic_studies Limits: Adult / Female / Humans / Pregnancy Language: En Journal: Prenat Diagn Year: 2012 Document type: Article