Mutation of TBCK causes a rare recessive developmental disorder

OBJECTIVE: To characterize the underlying genetic defect in a family with 3 siblings affected by a severe, yet viable, congenital disorder. METHODS: Extensive genetic and metabolic investigations were performed, and the affected children were imaged at different ages. Whole-genome genotyping and who...

Descripción completa

Detalles Bibliográficos
Autores principales: Guerreiro, Rita J., Brown, Rachel, Dian, Donnai, de Goede, Christian, Bras, Jose, Mole, Sara E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4881620/
https://www.ncbi.nlm.nih.gov/pubmed/27275012
http://dx.doi.org/10.1212/NXG.0000000000000076

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4881620/
https://www.ncbi.nlm.nih.gov/pubmed/27275012
http://dx.doi.org/10.1212/NXG.0000000000000076

Ejemplares similares