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Systematic analysis of physical examination characteristics of 94 individuals with Joubert syndrome: Keys to suspecting the diagnosis.
Forsyth, RaeLynn; Parisi, Melissa A; Altintas, Burak; Malicdan, May Christine; Vilboux, Thierry; Knoll, Jasmine; Brooks, Brian P; Zein, Wadih M; Gahl, William A; Toro, Camilo; Gunay-Aygun, Meral.
Afiliación
  • Forsyth R; Department of Pediatrics and McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
  • Parisi MA; Intellectual & Developmental Disabilities Branch, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.
  • Altintas B; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Malicdan MC; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA.
  • Vilboux T; Inova Functional Laboratory, Inova Health System, Fairfax, Virginia, USA.
  • Knoll J; Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Brooks BP; Division of Genetics and Genomics, Harvard Medical School, Boston, Massachusetts, USA.
  • Zein WM; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Gahl WA; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Toro C; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA.
  • Gunay-Aygun M; Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Am J Med Genet C Semin Med Genet ; 190(1): 121-130, 2022 03.
Article en En | MEDLINE | ID: mdl-35312150
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Anomalías Múltiples / Anomalías del Ojo / Enfermedades Renales Quísticas Tipo de estudio: Diagnostic_studies Límite: Adult / Child / Female / Humans / Male Idioma: En Revista: Am J Med Genet C Semin Med Genet Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Anomalías Múltiples / Anomalías del Ojo / Enfermedades Renales Quísticas Tipo de estudio: Diagnostic_studies Límite: Adult / Child / Female / Humans / Male Idioma: En Revista: Am J Med Genet C Semin Med Genet Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos