Currarino Syndrome and HPE Microform Associated with a 2.7-Mb Deletion in 7q36.3 Excluding SHH Gene

Por Coutton, C., Poreau, B., Devillard, F., Durand, C., Odent, S., Rozel, C., Vieville, G., Amblard, F., Jouk, P.-S., Satre, V.
Publicado em 2014

Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene.

Por Satre, V, Monnier, N, Berthoin, F, Ayuso, C, Joannard, A, Jouk, P S, Lopez-Pajares, I, Megabarne, A, Philippe, H J, Plauchu, H, Torres, M L, Lunardi, J
Publicado em 1999