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Two new mutations of the CLMP gene identified in a newborn presenting congenital short-bowel syndrome.
Gonnaud, Lucile; Alves, Maria M; Cremillieux, Clara; Billiemaz, Kareen; Destombe, Sylvie; Varlet, François; Lopez, Manuel; Trapes, Laurène; Touraine, Renaud; Hofstra, Robert M W; Patural, Hugues.
Afiliación
  • Gonnaud L; Neonatal Intensive Care Unit, Department of Pediatric Medicine, University Hospital of Saint-Étienne, 42055 Saint-Étienne, France.
  • Alves MM; Department of Clinical Genetics, Erasmus University Medical Center, PB 2040, 3000 CA Rotterdam, The Netherlands.
  • Cremillieux C; Neonatal Intensive Care Unit, Department of Pediatric Medicine, University Hospital of Saint-Étienne, 42055 Saint-Étienne, France.
  • Billiemaz K; Neonatal Intensive Care Unit, Department of Pediatric Medicine, University Hospital of Saint-Étienne, 42055 Saint-Étienne, France.
  • Destombe S; Neonatal Intensive Care Unit, Department of Pediatric Medicine, University Hospital of Saint-Étienne, 42055 Saint-Étienne, France.
  • Varlet F; Department of Pediatric Surgery, University Hospital of Saint-Étienne, 42055 Saint-Étienne, France.
  • Lopez M; Department of Pediatric Surgery, University Hospital of Saint-Étienne, 42055 Saint-Étienne, France.
  • Trapes L; Neonatal Intensive Care Unit, Department of Pediatric Medicine, University Hospital of Saint-Étienne, 42055 Saint-Étienne, France.
  • Touraine R; Department of Genetics, University Hospital of Saint-Étienne, 42055 Saint-Étienne, France; EA SNA-EPIS Research Laboratory 4607, Jean-Monnet University, 42055 Saint-Étienne, France.
  • Hofstra RM; Department of Clinical Genetics, Erasmus University Medical Center, PB 2040, 3000 CA Rotterdam, The Netherlands.
  • Patural H; Neonatal Intensive Care Unit, Department of Pediatric Medicine, University Hospital of Saint-Étienne, 42055 Saint-Étienne, France; EA SNA-EPIS Research Laboratory 4607, Jean-Monnet University, 42055 Saint-Étienne, France. Electronic address: hugues.patural@chu-st-etienne.fr.
Clin Res Hepatol Gastroenterol ; 40(6): e65-e67, 2016 Dec.
Article en En | MEDLINE | ID: mdl-27720179
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Seudoobstrucción Intestinal / Proteína de la Membrana Similar al Receptor de Coxsackie y Adenovirus / Mutación Tipo de estudio: Prognostic_studies Límite: Female / Humans / Newborn Idioma: En Revista: Clin Res Hepatol Gastroenterol Año: 2016 Tipo del documento: Article País de afiliación: Francia
Texto completo
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Seudoobstrucción Intestinal / Proteína de la Membrana Similar al Receptor de Coxsackie y Adenovirus / Mutación Tipo de estudio: Prognostic_studies Límite: Female / Humans / Newborn Idioma: En Revista: Clin Res Hepatol Gastroenterol Año: 2016 Tipo del documento: Article País de afiliación: Francia