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Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects.
Boyle, Lia; Wamelink, Mirjam M C; Salomons, Gajja S; Roos, Birthe; Pop, Ana; Dauber, Andrew; Hwa, Vivian; Andrew, Melissa; Douglas, Jessica; Feingold, Murray; Kramer, Nancy; Saitta, Sulagna; Retterer, Kyle; Cho, Megan T; Begtrup, Amber; Monaghan, Kristin G; Wynn, Julia; Chung, Wendy K.
Afiliación
  • Boyle L; College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA.
  • Wamelink MMC; Metabolic Unit, Department of Clinical Chemistry, Neuroscience Campus Amsterdam, VU University Medical Center Amsterdam, 1081 HV Amsterdam, the Netherlands.
  • Salomons GS; Metabolic Unit, Department of Clinical Chemistry, Neuroscience Campus Amsterdam, VU University Medical Center Amsterdam, 1081 HV Amsterdam, the Netherlands.
  • Roos B; Metabolic Unit, Department of Clinical Chemistry, Neuroscience Campus Amsterdam, VU University Medical Center Amsterdam, 1081 HV Amsterdam, the Netherlands.
  • Pop A; Metabolic Unit, Department of Clinical Chemistry, Neuroscience Campus Amsterdam, VU University Medical Center Amsterdam, 1081 HV Amsterdam, the Netherlands.
  • Dauber A; Cincinnati Center for Growth Disorders, Division of Endocrinology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
  • Hwa V; Cincinnati Center for Growth Disorders, Division of Endocrinology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
  • Andrew M; Cincinnati Center for Growth Disorders, Division of Endocrinology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
  • Douglas J; Division of Genetics, Boston Children's Hospital, Boston, MA 02115, USA.
  • Feingold M; Division of Genetics, Boston Children's Hospital, Boston, MA 02115, USA.
  • Kramer N; Department of Medical Genetics, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.
  • Saitta S; Department of Medical Genetics, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.
  • Retterer K; GeneDx, Gaithersburg, MD 20877, USA.
  • Cho MT; GeneDx, Gaithersburg, MD 20877, USA.
  • Begtrup A; GeneDx, Gaithersburg, MD 20877, USA.
  • Monaghan KG; GeneDx, Gaithersburg, MD 20877, USA.
  • Wynn J; Department of Pediatrics, Columbia University, New York, NY 10032, USA.
  • Chung WK; Department of Pediatrics, Columbia University, New York, NY 10032, USA; Department of Medicine, Columbia University, New York, NY 10032, USA. Electronic address: wkc15@columbia.edu.
Am J Hum Genet ; 98(6): 1235-1242, 2016 06 02.
Article en En | MEDLINE | ID: mdl-27259054
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Transcetolasa / Discapacidades del Desarrollo / Enanismo / Cardiopatías Congénitas / Mutación Tipo de estudio: Prognostic_studies Límite: Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Año: 2016 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Transcetolasa / Discapacidades del Desarrollo / Enanismo / Cardiopatías Congénitas / Mutación Tipo de estudio: Prognostic_studies Límite: Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Año: 2016 Tipo del documento: Article