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Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature.
Ansar, Muhammad; Paracha, Sohail Aziz; Serretti, Alessandro; Sarwar, Muhammad T; Khan, Jamshed; Ranza, Emmanuelle; Falconnet, Emilie; Iwaszkiewicz, Justyna; Shah, Sayyed Fahim; Qaisar, Azhar Ali; Santoni, Federico A; Zoete, Vincent; Megarbane, Andre; Ahmed, Jawad; Colombo, Roberto; Makrythanasis, Periklis; Antonarakis, Stylianos E.
Afiliación
  • Ansar M; Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland.
  • Paracha SA; Institute of Basic Medical Sciences, Khyber Medical University, Peshawar, Pakistan.
  • Serretti A; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
  • Sarwar MT; Institute of Basic Medical Sciences, Khyber Medical University, Peshawar, Pakistan.
  • Khan J; Institute of Basic Medical Sciences, Khyber Medical University, Peshawar, Pakistan.
  • Ranza E; Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland.
  • Falconnet E; Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.
  • Iwaszkiewicz J; Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland.
  • Shah SF; Swiss Institute of Bioinformatics, Molecular Modeling Group, Batiment Genopode, Unil Sorge, Lausanne, Switzerland.
  • Qaisar AA; Department of Medicine, KMU Institute of Medical Sciences, Kohat, Pakistan.
  • Santoni FA; Radiology Department, Lady Reading Hospital, Peshawar, Pakistan.
  • Zoete V; Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland.
  • Megarbane A; Department of Endocrinology Diabetes and Metabolism, University Hospital of Lausanne, Lausanne, Switzerland.
  • Ahmed J; Swiss Institute of Bioinformatics, Molecular Modeling Group, Batiment Genopode, Unil Sorge, Lausanne, Switzerland.
  • Colombo R; Department of Fundamental Oncology, Lausanne University, Ludwig Institute for Cancer Research, Route de la Corniche 9A, Epalinges, Switzerland.
  • Makrythanasis P; Institut Jerome Lejeune, Paris, France.
  • Antonarakis SE; Institute of Basic Medical Sciences, Khyber Medical University, Peshawar, Pakistan.
Hum Mol Genet ; 28(6): 972-979, 2019 03 15.
Article en En | MEDLINE | ID: mdl-30481285
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Variación Genética / Discapacidades del Desarrollo / Proteínas F-Box / Enanismo / Alelos / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Suiza
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Variación Genética / Discapacidades del Desarrollo / Proteínas F-Box / Enanismo / Alelos / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Suiza