Insight into ALKBH8-related intellectual developmental disability based on the first pathogenic missense variant.

Maddirevula, Sateesh; Alameer, Seham; Ewida, Nour; de Sousa, Mirta Mittelstedt Leal; Bjørås, Magnar; Vågbø, Cathrine Broberg; Alkuraya, Fowzan S

Maddirevula, Sateesh; Alameer, Seham; Ewida, Nour; de Sousa, Mirta Mittelstedt Leal; Bjørås, Magnar; Vågbø, Cathrine Broberg; Alkuraya, Fowzan S.

Afiliación

Maddirevula S; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, 11211, Saudi Arabia.
Alameer S; Department of Pediatrics, Ministry of the National Guard-Health Affairs, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia.
Ewida N; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, 11211, Saudi Arabia.
de Sousa MML; Department of Clinical and Molecular Medicine, Norwegian University of Science and Technology, 7491, Trondheim, Norway.
Bjørås M; Department of Clinical and Molecular Medicine, Norwegian University of Science and Technology, 7491, Trondheim, Norway.
Vågbø CB; Department of Clinical and Molecular Medicine, Norwegian University of Science and Technology, 7491, Trondheim, Norway.
Alkuraya FS; Proteomics and Modomics Experimental Core and St. Olavs Hospital Central Staff, Trondheim, Norway.

Hum Genet ; 141(2): 209-215, 2022 Feb.

Article en En | MEDLINE | ID: mdl-34757492

Asunto(s)

Homólogo 8 de AlkB ARNt Metiltransferasa/genética; Discapacidades del Desarrollo/genética; Discapacidad Intelectual/genética; Mutación Missense; Homólogo 8 de AlkB ARNt Metiltransferasa/química; Homólogo 8 de AlkB ARNt Metiltransferasa/metabolismo; Secuencia de Aminoácidos; Niño; Consanguinidad; Secuencia Conservada; Discapacidades del Desarrollo/enzimología; Femenino; Homocigoto; Humanos; Discapacidad Intelectual/enzimología; Masculino; Microcefalia/genética; Modelos Moleculares; Linaje; Procesamiento Postranscripcional del ARN; Convulsiones/genética

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Discapacidades del Desarrollo / Mutación Missense / Homólogo 8 de AlkB ARNt Metiltransferasa / Discapacidad Intelectual Tipo de estudio: Prognostic_studies Límite: Child / Female / Humans / Male Idioma: En Revista: Hum Genet Año: 2022 Tipo del documento: Article País de afiliación: Arabia Saudita

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