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Clinical characterization and further confirmation of the autosomal recessive SLC12A2 disease.
Bilal Shamsi, Monis; Saleh, Mohamed; Almuntashri, Makki; Alharby, Essa; Samman, Manar; Peake, Roy W A; Al-Fadhli, Fatima M; Alasmari, Ali; Faqeih, Eissa A; Almontashiri, Naif A M.
Afiliación
  • Bilal Shamsi M; Center for Genetics and Inherited Diseases, Taibah University, Almadinah Almunwarah, Saudi Arabia.
  • Saleh M; Section of Medical Genetics, Children's Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
  • Almuntashri M; Department of Medical Imaging, King Abdulaziz Medical City, King Saud bin Abdulaziz University for Health Sciences, King Abdullah International Medical Research Center, Riyadh, Saudi Arabia.
  • Alharby E; Center for Genetics and Inherited Diseases, Taibah University, Almadinah Almunwarah, Saudi Arabia.
  • Samman M; Molecular Pathology, Pathology and Clinical Laboratory Medicine Administration, King Fahad Medical City, Riyadh, Saudi Arabia.
  • Peake RWA; Department of Laboratory Medicine, Boston Children's Hospital, Boston, MA, USA.
  • Al-Fadhli FM; Unit of Genetic Diseases, Department of Pediatrics, Maternity and Children's Hospital, Almadinah Almunwarah, Saudi Arabia.
  • Alasmari A; Section of Medical Genetics, Children's Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
  • Faqeih EA; Section of Medical Genetics, Children's Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
  • Almontashiri NAM; Center for Genetics and Inherited Diseases, Taibah University, Almadinah Almunwarah, Saudi Arabia. nmontashri@taibahu.edu.sa.
J Hum Genet ; 66(7): 689-695, 2021 Jul.
Article en En | MEDLINE | ID: mdl-33500540
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Predisposición Genética a la Enfermedad / Sordera / Miembro 2 de la Familia de Transportadores de Soluto 12 / Discapacidad Intelectual Límite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Arabia Saudita
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Predisposición Genética a la Enfermedad / Sordera / Miembro 2 de la Familia de Transportadores de Soluto 12 / Discapacidad Intelectual Límite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Arabia Saudita