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Congenital X-linked neutropenia with myelodysplasia and somatic tetraploidy due to a germline mutation in SEPT6.
Renella, Raffaele; Gagne, Katelyn; Beauchamp, Ellen; Fogel, Jonathan; Perlov, Aleksej; Sola, Mireia; Schlaeger, Thorsten; Hofmann, Inga; Shimamura, Akiko; Ebert, Benjamin L; Schmitz-Abe, Klaus; Markianos, Kyriacos; Murphy, Kristi; Sun, Liang; Rockowitz, Shira; Sliz, Piotr; Campagna, Dean R; Springer, Timothy A; Bahl, Christopher; Agarwal, Suneet; Fleming, Mark D; Williams, David A.
Afiliação
  • Renella R; Pediatric Hematology-Oncology Research Laboratory, Lausanne University Hospital, Switzerland.
  • Gagne K; Division of Hematology-Oncology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Beauchamp E; Division of Hematology-Oncology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Fogel J; Department of Medical Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, Massachusetts, USA.
  • Perlov A; Division of Hematology-Oncology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Sola M; Division of Hematology-Oncology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Schlaeger T; Institute for Protein Innovation, Boston, Massachusetts, USA.
  • Hofmann I; Division of Hematology-Oncology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Shimamura A; Division of Hematology-Oncology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Ebert BL; Department of Pathology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Schmitz-Abe K; Division of Pediatric Hematology-Oncology, University of Wisconsin School of Medicine, Madison, Wisconsin, USA.
  • Markianos K; Division of Hematology-Oncology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Murphy K; Department of Medical Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, Massachusetts, USA.
  • Sun L; Harvard Stem Cell Institute, Harvard Medical School, Boston, Massachusetts, USA.
  • Rockowitz S; Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Sliz P; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Campagna DR; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Springer TA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Bahl C; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Agarwal S; Division of Molecular Medicine, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Fleming MD; Program in Cellular & Molecular Medicine, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Williams DA; Department of Pathology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Am J Hematol ; 97(1): 18-29, 2022 01 01.
Article em En | MEDLINE | ID: mdl-34677878
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Síndromes Mielodisplásicas / Mutação em Linhagem Germinativa / Doenças Genéticas Ligadas ao Cromossomo X / Septinas / Neutropenia Tipo de estudo: Prognostic_studies Limite: Humans / Male / Newborn Idioma: En Revista: Am J Hematol Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Suíça
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Síndromes Mielodisplásicas / Mutação em Linhagem Germinativa / Doenças Genéticas Ligadas ao Cromossomo X / Septinas / Neutropenia Tipo de estudo: Prognostic_studies Limite: Humans / Male / Newborn Idioma: En Revista: Am J Hematol Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Suíça