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Ocular manifestations among patients with congenital insensitivity to pain due to variants in PRDM12 and SCN9A genes.
Elsana, Baker; Imtirat, Ahed; Yagev, Ronit; Gradstein, Libe; Majdalani, Pierre; Iny, Oren; Parvari, Ruti; Tsumi, Erez.
Afiliación
  • Elsana B; Ophthalmology Department, Soroka University Medical Center and Clalit Health Services (Affiliated with the Faculty of Health Sciences, Ben-Gurion University of the Negev), Beer Sheva, Israel.
  • Imtirat A; Ophthalmology Department, Soroka University Medical Center and Clalit Health Services (Affiliated with the Faculty of Health Sciences, Ben-Gurion University of the Negev), Beer Sheva, Israel.
  • Yagev R; Ophthalmology Department, Soroka University Medical Center and Clalit Health Services (Affiliated with the Faculty of Health Sciences, Ben-Gurion University of the Negev), Beer Sheva, Israel.
  • Gradstein L; Ophthalmology Department, Soroka University Medical Center and Clalit Health Services (Affiliated with the Faculty of Health Sciences, Ben-Gurion University of the Negev), Beer Sheva, Israel.
  • Majdalani P; The Shraga Segal Department of Microbiology, Immunology & Genetics, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.
  • Iny O; The National Institute for Biotechnology in the Negev, Ben-Gurion University of the Negev, Beer-Sheva, Israel.
  • Parvari R; Ophthalmology Department, Soroka University Medical Center and Clalit Health Services (Affiliated with the Faculty of Health Sciences, Ben-Gurion University of the Negev), Beer Sheva, Israel.
  • Tsumi E; The Shraga Segal Department of Microbiology, Immunology & Genetics, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.
Am J Med Genet A ; 188(12): 3463-3468, 2022 12.
Article en En | MEDLINE | ID: mdl-36111846
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Insensibilidad Congénita al Dolor / Proteínas Portadoras / Opacidad de la Córnea / Canal de Sodio Activado por Voltaje NAV1.7 / Proteínas del Tejido Nervioso Límite: Humans Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: Israel
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Insensibilidad Congénita al Dolor / Proteínas Portadoras / Opacidad de la Córnea / Canal de Sodio Activado por Voltaje NAV1.7 / Proteínas del Tejido Nervioso Límite: Humans Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: Israel