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A de novo start-loss in EFTUD2 associated with mandibulofacial dysostosis with microcephaly: case report.
Kohailan, Muhammad; Al-Saei, Omayma; Padmajeya, Sujitha; Aamer, Waleed; Elbashir, Najwa; Al-Shabeeb Akil, Ammira; Kamboh, Abdul-Rauf; Fakhro, Khalid.
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  • Kohailan M; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha 34110, Qatar.
  • Al-Saei O; Department of Human Genetics, Sidra Medicine, Doha 26999, Qatar.
  • Padmajeya S; Department of Human Genetics, Sidra Medicine, Doha 26999, Qatar.
  • Aamer W; Department of Human Genetics, Sidra Medicine, Doha 26999, Qatar.
  • Elbashir N; Department of Human Genetics, Sidra Medicine, Doha 26999, Qatar.
  • Al-Shabeeb Akil A; Department of Human Genetics, Sidra Medicine, Doha 26999, Qatar.
  • Kamboh AR; Department of Pediatric Ophthalmology, Sidra Medicine, Doha 26999, Qatar.
  • Fakhro K; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha 34110, Qatar.
Cold Spring Harb Mol Case Stud ; 8(4)2022 06.
Article en En | MEDLINE | ID: mdl-35732499
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Disostosis Mandibulofacial / Microcefalia Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans Idioma: En Revista: Cold Spring Harb Mol Case Stud Año: 2022 Tipo del documento: Article País de afiliación: Qatar
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Disostosis Mandibulofacial / Microcefalia Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans Idioma: En Revista: Cold Spring Harb Mol Case Stud Año: 2022 Tipo del documento: Article País de afiliación: Qatar