Bonet-Fernández, J.M., Aroca-Aguilar, J.D., Corton, M., Ramírez, A.I., Alexandre-Moreno, S., García-Antón, M.T., Salazar, J.J., Ferre-Fernández, J.J., Atienzar-Aroca, R., Villaverde, C., Iancu, I., Tamayo, A., Méndez-Hernández, C.D., Morales-Fernández, L., Rojas, B., Ayuso, C., Coca-Prados, M., Martinez-de-la-Casa, J.M., García-Feijoo, J., Escribano, J. (2020) CPAMD8 loss-of-function underlies non-dominant congenital glaucoma with variable anterior segment dysgenesis and abnormal extracellular matrix. Human genetics. 139(10):1209-1231
|
Protas, M.E., Weh, E., Footz, T., Kasberger, J., Baraban, S.C., Levin, A.V., Katz, L.J., Ritch, R., Walter, M.A., Semina, E.V., Gould, D.B. (2017) Mutations of conserved non-coding elements of PITX2 in patients with ocular dysgenesis and developmental glaucoma. Human molecular genetics. 26:3630-3638
|
