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Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.
Telegrafi, Aida; Webb, Bryn D; Robbins, Sarah M; Speck-Martins, Carlos E; FitzPatrick, David; Fleming, Leah; Redett, Richard; Dufke, Andreas; Houge, Gunnar; van Harssel, Jeske J T; Verloes, Alain; Robles, Angela; Manoli, Irini; Engle, Elizabeth C; Jabs, Ethylin W; Valle, David; Carey, John; Hoover-Fong, Julie E; Sobreira, Nara L M.
  • Telegrafi A; GeneDx, Gaithersburg, Maryland.
  • Webb BD; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York.
  • Robbins SM; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland.
  • Speck-Martins CE; Medical Genetic Unit, SARAH Network of Rehabilitation Hospitals, Brasilia-DF, Brazil.
  • FitzPatrick D; Human Genetics Unit, Medical and Developmental Genetics, University of Edinburgh Western General Hospital, Edinburgh, United Kingdom.
  • Fleming L; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland.
  • Redett R; Department of Plastic & Reconstructive Surgery, Johns Hopkins Hospital University School of Medicine, Baltimore, Maryland.
  • Dufke A; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
  • Houge G; Rare Disease Center, University of Tübingen, Tübingen, Germany.
  • van Harssel JJT; Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway.
  • Verloes A; Department of Clinical Genetics, University Medical Center, University of Utrecht, Utrecht, The Netherlands.
  • Robles A; Department of Genetics-Hospital Robert DEBRE, Paris, France.
  • Manoli I; Dr. Angela Robles Pediatrics Private Practice, San Sebastian, Puerto Rico.
  • Engle EC; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
  • Jabs EW; Department of Ophthalmology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts.
  • Valle D; Howard Hughes Medical Institution, Chevy Chase, Maryland.
  • Hoover-Fong JE; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York.
  • Sobreira NLM; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland.
Am J Med Genet A ; 173(10): 2763-2771, 2017 Oct.
Article en En | MEDLINE | ID: mdl-28777491
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Síndrome de Pierre Robin / Síndrome de Mobius / Proteínas Adaptadoras Transductoras de Señales / Enfermedades Musculares / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Año: 2017 Tipo del documento: Article
Texto completo
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PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Síndrome de Pierre Robin / Síndrome de Mobius / Proteínas Adaptadoras Transductoras de Señales / Enfermedades Musculares / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Año: 2017 Tipo del documento: Article