OBO ID: DOID:0060491

Citations

(1 total)

Term: SPOAN syndrome

Melo, U.S., Macedo-Souza, L.I., Figueiredo, T., Muotri, A.R., Gleeson, J.G., Coux, G., Armas, P., Calcaterra, N.B., Kitajima, J.P., Amorim, S., Olávio, T.R., Griesi-Oliveira, K., Coatti, G.C., Rocha, C.R., Martins-Pinheiro, M., Menck, C.F., Zaki, M.S., Kok, F., Zatz, M., Santos, S. (2015) Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome. Human molecular genetics. 24(24):6877-85