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Further evidence for the involvement of EFL1 in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features.
Tan, Queenie K-G; Cope, Heidi; Spillmann, Rebecca C; Stong, Nicholas; Jiang, Yong-Hui; McDonald, Marie T; Rothman, Jennifer A; Butler, Megan W; Frush, Donald P; Lachman, Ralph S; Lee, Brendan; Bacino, Carlos A; Bonner, Melanie J; McCall, Chad M; Pendse, Avani A; Walley, Nicole; Shashi, Vandana; Pena, Loren D M.
  • Tan QK; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA.
  • Cope H; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA.
  • Spillmann RC; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA.
  • Stong N; Institute for Genomic Medicine, Columbia University, New York, New York 10032, USA.
  • Jiang YH; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA.
  • McDonald MT; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA.
  • Rothman JA; Department of Pediatrics, Division of Hematology-Oncology, Duke University Medical Center, Durham, North Carolina 27710, USA.
  • Butler MW; Department of Pediatrics, Division of Gastroenterology, Hepatology and Nutrition, Duke University Medical Center, Durham, North Carolina 27710, USA.
  • Frush DP; Department of Radiology, Division of Pediatric Radiology, Duke University Medical Center, Durham, North Carolina 27710, USA.
  • Lachman RS; Cedars-Sinai Medical Center, International Skeletal Dysplasia Registry, Los Angeles, California 90048, USA.
  • Lee B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.
  • Bacino CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.
  • Bonner MJ; Department of Psychiatry and Behavioral Sciences, Division of Child and Family Mental Health and Developmental Neuroscience, Duke University Medical Center, Durham, North Carolina 27710, USA.
  • McCall CM; Department of Pathology, Duke University Medical Center, Durham, North Carolina 27710, USA.
  • Pendse AA; Department of Pathology, Duke University Medical Center, Durham, North Carolina 27710, USA.
  • Walley N; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA.
  • Shashi V; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA.
  • Pena LDM; Cincinnati Children's Hospital Medical Center, Division of Human Genetics, Cincinnati, Ohio 45229, USA.
Cold Spring Harb Mol Case Stud ; 4(5)2018 10.
Article en En | MEDLINE | ID: mdl-29970384
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Insuficiencia Pancreática Exocrina / Enfermedades de la Médula Ósea / GTP Fosfohidrolasas / Lipomatosis Tipo de estudio: Diagnostic_studies Límite: Adolescent / Female / Humans Idioma: En Año: 2018 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Insuficiencia Pancreática Exocrina / Enfermedades de la Médula Ósea / GTP Fosfohidrolasas / Lipomatosis Tipo de estudio: Diagnostic_studies Límite: Adolescent / Female / Humans Idioma: En Año: 2018 Tipo del documento: Article