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Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations.
Voigt, Claudia; Mégarbané, André; Neveling, Kornelia; Czeschik, Johanna Christina; Albrecht, Beate; Callewaert, Bert; von Deimling, Florian; Hehr, Andreas; Falkenberg Smeland, Marie; König, Rainer; Kuechler, Alma; Marcelis, Carlo; Puiu, Maria; Reardon, Willie; Riise Stensland, Hilde Monica Frostad; Schweiger, Bernd; Steehouwer, Marloes; Teller, Christopher; Martin, Marcel; Rahmann, Sven; Hehr, Ute; Brunner, Han G; Lüdecke, Hermann-Josef; Wieczorek, Dagmar.
Affiliation
  • Voigt C; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.
Orphanet J Rare Dis ; 8: 110, 2013 Jul 24.
Article in En | MEDLINE | ID: mdl-23879989
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Peptide Elongation Factors / Esophageal Atresia / Genetic Association Studies / Mandibulofacial Dysostosis / Intellectual Disability / Mutation Type of study: Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Language: En Journal: Orphanet J Rare Dis Journal subject: MEDICINA Year: 2013 Document type: Article Affiliation country: Germany
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Peptide Elongation Factors / Esophageal Atresia / Genetic Association Studies / Mandibulofacial Dysostosis / Intellectual Disability / Mutation Type of study: Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Language: En Journal: Orphanet J Rare Dis Journal subject: MEDICINA Year: 2013 Document type: Article Affiliation country: Germany