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The genotypic and phenotypic spectrum of pycnodysostosis in Saudi Arabia: Novel variants and clinical findings.
Mushiba, Aziza M; Faqeih, Eissa; Saleh, Mohammed A; Ramzan, Khushnooda; Imtiaz, Faiqa; Al-Owain, Mohammed; Alhashem, Amal M; Alswaid, Abdulrahman.
Afiliación
  • Mushiba AM; Section of Medical Genetics, Department of Pediatrics, Children's Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
  • Faqeih E; Section of Medical Genetics, Department of Pediatrics, Children's Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
  • Saleh MA; Section of Medical Genetics, Department of Pediatrics, Children's Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
  • Ramzan K; Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
  • Imtiaz F; Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
  • Al-Owain M; Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
  • Alhashem AM; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
  • Alswaid A; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
Am J Med Genet A ; 185(8): 2455-2463, 2021 08.
Article en En | MEDLINE | ID: mdl-33963797
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Fenotipo / Variación Genética / Predisposición Genética a la Enfermedad / Alelos / Estudios de Asociación Genética / Picnodisostosis Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child, preschool / Female / Humans / Male País/Región como asunto: Asia Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Arabia Saudita
Texto completo
Imprimir
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PubMed Links
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Fenotipo / Variación Genética / Predisposición Genética a la Enfermedad / Alelos / Estudios de Asociación Genética / Picnodisostosis Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child, preschool / Female / Humans / Male País/Región como asunto: Asia Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Arabia Saudita