Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability

INTRODUCTION: Recent evidence has emerged linking mutations in CDK13 to syndromic congenital heart disease. We present here genetic and phenotypic data pertaining to 16 individuals with CDK13 mutations. METHODS: Patients were investigated by exome sequencing, having presented with developmental dela...

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Detalles Bibliográficos
Autores principales: Hamilton, Mark J, Caswell, Richard C, Canham, Natalie, Cole, Trevor, Firth, Helen V, Foulds, Nicola, Heimdal, Ketil, Hobson, Emma, Houge, Gunnar, Joss, Shelagh, Kumar, Dhavendra, Lampe, Anne Katrin, Maystadt, Isabelle, McKay, Victoria, Metcalfe, Kay, Newbury-Ecob, Ruth, Park, Soo-Mi, Robert, Leema, Rustad, Cecilie F, Wakeling, Emma, Wilkie, Andrew O M, Study, The Deciphering Developmental Disorders, Twigg, Stephen R F, Suri, Mohnish
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2018
Materias:
New Disease Loci
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5749303/
https://www.ncbi.nlm.nih.gov/pubmed/29021403
http://dx.doi.org/10.1136/jmedgenet-2017-104620

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