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An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences.
Gripp, Karen W; Sol-Church, Katia; Smpokou, Patroula; Graham, Gail E; Stevenson, David A; Hanson, Heather; Viskochil, David H; Baker, Laura C; Russo, Bridget; Gardner, Nick; Stabley, Deborah L; Kolbe, Verena; Rosenberger, Georg.
  • Gripp KW; Division of Medical Genetics, A. I. duPont Hospital for Children, Wilmington, Delaware.
  • Sol-Church K; Center for Applied Clinical Genomics, A. I. duPont Hospital for Children, Wilmington, Delaware.
  • Smpokou P; Division of Genetics and Metabolism, Children's National Health System, Washington, District of Columbia.
  • Graham GE; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
  • Stevenson DA; Division of Medical Genetics, Stanford University, Stanford, California.
  • Hanson H; Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah.
  • Viskochil DH; Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah.
  • Baker LC; Division of Medical Genetics, A. I. duPont Hospital for Children, Wilmington, Delaware.
  • Russo B; Center for Applied Clinical Genomics, A. I. duPont Hospital for Children, Wilmington, Delaware.
  • Gardner N; Center for Applied Clinical Genomics, A. I. duPont Hospital for Children, Wilmington, Delaware.
  • Stabley DL; Center for Applied Clinical Genomics, A. I. duPont Hospital for Children, Wilmington, Delaware.
  • Kolbe V; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Rosenberger G; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Am J Med Genet A ; 167A(9): 2085-97, 2015 Sep.
Article en En | MEDLINE | ID: mdl-25914166
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Anomalías Múltiples / Proteínas Proto-Oncogénicas p21(ras) / Mutación de Línea Germinal / Predisposición Genética a la Enfermedad / Síndrome de Costello Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Año: 2015 Tipo del documento: Article
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Anomalías Múltiples / Proteínas Proto-Oncogénicas p21(ras) / Mutación de Línea Germinal / Predisposición Genética a la Enfermedad / Síndrome de Costello Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Año: 2015 Tipo del documento: Article