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Lethal neonatal bone marrow failure syndrome with multiple congenital abnormalities, including limb defects, due to a constitutional deletion of 3' MECOM.
van der Veken, Lars T; Maiburg, Merel C; Groenendaal, Floris; van Gijn, Mariëlle E; Bloem, Andries C; Erpelinck, Claudia; Gröschel, Stefan; Sanders, Mathijs A; Delwel, Ruud; Bierings, Marc B; Buijs, Arjan.
Afiliación
  • van der Veken LT; Department of Genetics, University Medical Center Utrecht, Wilhelmina Children's Hospital, Utrecht University, Rotterdam, the Netherlands.
  • Maiburg MC; Department of Genetics, University Medical Center Utrecht, Wilhelmina Children's Hospital, Utrecht University, Rotterdam, the Netherlands.
  • Groenendaal F; Department of Neonatology, University Medical Center Utrecht, Wilhelmina Children's Hospital, Utrecht University, Rotterdam, the Netherlands.
  • van Gijn ME; Department of Genetics, University Medical Center Utrecht, Wilhelmina Children's Hospital, Utrecht University, Rotterdam, the Netherlands.
  • Bloem AC; Department of Immunology, University Medical Center Utrecht, Wilhelmina Children's Hospital, Utrecht University, Rotterdam, the Netherlands.
  • Erpelinck C; Department of Hematology, Erasmus University Medical Center, Rotterdam, the Netherlands.
  • Gröschel S; Department of Hematology, Erasmus University Medical Center, Rotterdam, the Netherlands.
  • Sanders MA; Department of Hematology, Erasmus University Medical Center, Rotterdam, the Netherlands.
  • Delwel R; Department of Hematology, Erasmus University Medical Center, Rotterdam, the Netherlands.
  • Bierings MB; Department of Pediatric Hematology and stem cell transplantation, University Medical Center Utrecht, Wilhelmina Children's Hospital, Utrecht University, the Netherlands.
  • Buijs A; Department of Genetics, University Medical Center Utrecht, Wilhelmina Children's Hospital, Utrecht University, Rotterdam, the Netherlands a.buijs@umcutrecht.nl.
Haematologica ; 103(4): e173-e176, 2018 04.
Article en En | MEDLINE | ID: mdl-29439187
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Texto completo: 1 Colección: 01-internacional Asunto principal: Enfermedades de la Médula Ósea / Proteína del Locus del Complejo MDS1 y EV11 / Hemoglobinuria Paroxística / Anemia Aplásica Límite: Humans / Male / Newborn Idioma: En Revista: Haematologica Año: 2018 Tipo del documento: Article País de afiliación: Países Bajos
Texto completo
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Texto completo: 1 Colección: 01-internacional Asunto principal: Enfermedades de la Médula Ósea / Proteína del Locus del Complejo MDS1 y EV11 / Hemoglobinuria Paroxística / Anemia Aplásica Límite: Humans / Male / Newborn Idioma: En Revista: Haematologica Año: 2018 Tipo del documento: Article País de afiliación: Países Bajos