ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature

Autor: Kushary, S.T., Revah-Politi, A., Barua, S., Ganapathi, M., Accogli, A., Aggarwal, V., Brunetti-Pierri, N., Cappuccio, G., Capra, V., Fagerberg, C.R., Gazdagh, G., Guzman, E., Hadonou, M., Harrison, V., Havelund, K., Iancu, D., Kraus, A., Lippa, N.C., Mansukhani, M., McBrian, D., McEntagart, M., Pacio-Miguez, M., Palomares-Bralo, M., Pottinger, C., Ruivenkamp, C.A.L., Sacco, O., Santen, G.W.E., Santos-Simarro, F., Scala, M., Short, J., Sorensen, K.P., Woods, C.G., Yeboa, K.A., DDD Study, TUDP Consortium

Publikováno v: Am J Med Genet A
American Journal of Medical Genetics Part A. WILEY
American Journal of Medical Genetics Part A
Kushary, S T, Revah-Politi, A, Barua, S, Ganapathi, M, Accogli, A, Aggarwal, V, Brunetti-Pierri, N, Cappuccio, G, Capra, V, Fagerberg, C R, Gazdagh, G, Guzman, E, Hadonou, M, Harrison, V, Havelund, K, Iancu, D, Kraus, A, Lippa, N C, Mansukhani, M, McBrian, D, McEntagart, M, Pacio-Míguez, M, Palomares-Bralo, M, Pottinger, C, Ruivenkamp, C A L, Sacco, O, Santen, G W E, Santos-Simarro, F, Scala, M, Short, J, Sørensen, K P, Woods, C G, Anyane Yeboa, K, DDD Study & TUDP Consortium 2021, ' ZTTK syndrome : Clinical and molecular findings of 15 cases and a review of the literature ', American Journal of Medical Genetics, Part A, vol. 185, no. 12, pp. 3740-3753 . https://doi.org/10.1002/ajmg.a.62445

Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome is caused by de novo loss-of-function variants in the SON gene (MIM #617140). This multisystemic disorder is characterized by intellectual disability, seizures, abnormal brain imaging, variable dysmorphic fea

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4593b25670ca216555ca32b4c3200bd
https://hdl.handle.net/1887/3213898