A Biallelic Truncating Variant in the TPR Domain of GEMIN5 Associated with Intellectual Disability and Cerebral Atrophy.

Ibrahim, Nazia; Naz, Shagufta; Mattioli, Francesca; Guex, Nicolas; Sharif, Saima; Iqbal, Afia; Ansar, Muhammad; Reymond, Alexandre

Ibrahim, Nazia; Naz, Shagufta; Mattioli, Francesca; Guex, Nicolas; Sharif, Saima; Iqbal, Afia; Ansar, Muhammad; Reymond, Alexandre.

Affiliation

Ibrahim N; Department of Zoology, Lahore College for Women University, Lahore 54000, Pakistan.
Naz S; Department of Zoology, University of Sialkot, Sialkot 51040, Pakistan.
Mattioli F; Department of Zoology, Lahore College for Women University, Lahore 54000, Pakistan.
Guex N; Center for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland.
Sharif S; Bioinformatics Competence Center, University of Lausanne, 1015 Lausanne, Switzerland.
Iqbal A; Department of Zoology, Lahore College for Women University, Lahore 54000, Pakistan.
Ansar M; Department of Zoology, Lahore College for Women University, Lahore 54000, Pakistan.
Reymond A; Department of Ophthalmology, University of Lausanne, Jules-Gonin Eye Hospital, Fondation Aisle des Aveugles, 1004 Lausanne, Switzerland.

Genes (Basel) ; 14(3)2023 03 13.

Article de En | MEDLINE | ID: mdl-36980979

Sujet(s)
Mots clés

TPR domain; aspartic acid deletion; autosomal recessive; cerebral atrophy; consanguinity; intellectual disability; neurodevelopmental disorder

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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Troubles du développement neurologique / Déficience intellectuelle Type d'étude: Etiology_studies / Risk_factors_studies Limites: Humans / Male Langue: En Journal: Genes (Basel) Année: 2023 Type de document: Article Pays d'affiliation: Pakistan Pays de publication: Suisse

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