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Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1.
Kocak, Hande; Ballew, Bari J; Bisht, Kamlesh; Eggebeen, Rebecca; Hicks, Belynda D; Suman, Shalabh; O'Neil, Adri; Giri, Neelam; Maillard, Ivan; Alter, Blanche P; Keegan, Catherine E; Nandakumar, Jayakrishnan; Savage, Sharon A.
Afiliação
  • Kocak H; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan 48109, USA;
  • Ballew BJ; Division of Cancer Epidemiology and Genetics (DCEG), National Cancer Institute (NCI), Rockville, Maryland 20850, USA;
  • Bisht K; Department of Molecular, Cellular, and Developmental Biology, University of Michigan, Ann Arbor, Michigan 48109, USA;
  • Eggebeen R; Cancer Genomics Research Laboratory, Leidos Biomedical Research, NCI-Frederick, Rockville, Maryland 20850, USA;
  • Hicks BD; Cancer Genomics Research Laboratory, Leidos Biomedical Research, NCI-Frederick, Rockville, Maryland 20850, USA;
  • Suman S; Cancer Genomics Research Laboratory, Leidos Biomedical Research, NCI-Frederick, Rockville, Maryland 20850, USA;
  • O'Neil A; Cancer Genomics Research Laboratory, Leidos Biomedical Research, NCI-Frederick, Rockville, Maryland 20850, USA;
  • Giri N; Division of Cancer Epidemiology and Genetics (DCEG), National Cancer Institute (NCI), Rockville, Maryland 20850, USA;
  • Maillard I; Life Sciences Institute, University of Michigan, Ann Arbor, Michigan 48109, USA; Division of Hematology-Oncology, Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan 48109, USA; Department of Cell and Developmental Biology, Ann Arbor, Michigan 48109, USA;
  • Alter BP; Division of Cancer Epidemiology and Genetics (DCEG), National Cancer Institute (NCI), Rockville, Maryland 20850, USA;
  • Keegan CE; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan 48109, USA; Department of Pediatrics, University of Michigan, Ann Arbor, Michigan 48109, USA.
  • Nandakumar J; Department of Molecular, Cellular, and Developmental Biology, University of Michigan, Ann Arbor, Michigan 48109, USA;
  • Savage SA; Division of Cancer Epidemiology and Genetics (DCEG), National Cancer Institute (NCI), Rockville, Maryland 20850, USA; savagesh@mail.nih.gov jknanda@umich.edu.
Genes Dev ; 28(19): 2090-102, 2014 Oct 01.
Article em En | MEDLINE | ID: mdl-25233904
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Mutação em Linhagem Germinativa / Disceratose Congênita / Serina Proteases / Retardo do Crescimento Fetal / Deficiência Intelectual / Microcefalia Tipo de estudo: Prognostic_studies Limite: Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Genes Dev Assunto da revista: BIOLOGIA MOLECULAR Ano de publicação: 2014 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Mutação em Linhagem Germinativa / Disceratose Congênita / Serina Proteases / Retardo do Crescimento Fetal / Deficiência Intelectual / Microcefalia Tipo de estudo: Prognostic_studies Limite: Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Genes Dev Assunto da revista: BIOLOGIA MOLECULAR Ano de publicação: 2014 Tipo de documento: Article