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Kilquist syndrome: A novel syndromic hearing loss disorder caused by homozygous deletion of SLC12A2.
Macnamara, Ellen F; Koehler, Alanna E; D'Souza, Precilla; Estwick, Tyra; Lee, Paul; Vezina, Gilbert; Fauni, Harper; Braddock, Stephen R; Torti, Erin; Holt, James Matthew; Sharma, Prashant; Malicdan, May Christine V; Tifft, Cynthia J.
Afiliación
  • Macnamara EF; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, Bethesda, Maryland.
  • Koehler AE; Office of the Clinical Director, National Human Genome Research Institute National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
  • D'Souza P; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, Bethesda, Maryland.
  • Estwick T; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, Bethesda, Maryland.
  • Lee P; Office of the Clinical Director, National Human Genome Research Institute National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
  • Vezina G; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, Bethesda, Maryland.
  • Fauni H; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, Bethesda, Maryland.
  • Braddock SR; Office of the Clinical Director, National Human Genome Research Institute National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
  • Torti E; Division of Diagnostic Imaging and Radiology, Children's National Health System, Washington, District of Columbia.
  • Holt JM; Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland.
  • Sharma P; Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland.
  • Malicdan MCV; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, Bethesda, Maryland.
  • Tifft CJ; Department of Pediatrics, Saint Louis University School of Medicine, St. Louis, Missouri.
Hum Mutat ; 40(5): 532-538, 2019 05.
Article en En | MEDLINE | ID: mdl-30740830
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Eliminación de Secuencia / Predisposición Genética a la Enfermedad / Miembro 2 de la Familia de Transportadores de Soluto 12 / Pérdida Auditiva Sensorineural / Homocigoto Tipo de estudio: Prognostic_studies Límite: Child, preschool / Humans / Male Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Eliminación de Secuencia / Predisposición Genética a la Enfermedad / Miembro 2 de la Familia de Transportadores de Soluto 12 / Pérdida Auditiva Sensorineural / Homocigoto Tipo de estudio: Prognostic_studies Límite: Child, preschool / Humans / Male Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article