A de novo variant in the X-linked gene CNKSR2 is associated with seizures and mild intellectual disability in a female patient.

Polla, Daniel L; Saunders, Harriet R; de Vries, Bert B A; van Bokhoven, Hans; de Brouwer, Arjan P M

Polla, Daniel L; Saunders, Harriet R; de Vries, Bert B A; van Bokhoven, Hans; de Brouwer, Arjan P M.

Affiliation

Polla DL; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Saunders HR; CAPES Foundation, Ministry of Education of Brazil, Brasília, Brazil.
de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
van Bokhoven H; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
de Brouwer APM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.

Mol Genet Genomic Med ; 7(10): e00861, 2019 10.

Article de En | MEDLINE | ID: mdl-31414730

Sujet(s)
Mots clés

CNKSR2; X-linked; de novo; exome sequencing; intellectual disability

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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Crises épileptiques / Protéines adaptatrices de la transduction du signal / Déficience intellectuelle Type d'étude: Prognostic_studies / Risk_factors_studies Limites: Child / Female / Humans Langue: En Journal: Mol Genet Genomic Med Année: 2019 Type de document: Article Pays d'affiliation: Pays-Bas

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