Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Rosario Hernaez"'
Autor:
C. González-González, Carolina Arroyo Díaz, Fernando Sánchez-Escribano, Maria Garcia-Hoyos, Isabel Lorda Sánchez, Cristina González Fanego, Rosario Hernaez Calzón
Publikováno v:
Ophthalmic Genetics. 33:107-110
Background: Blepharophimosis, ptosis and epicanthus inversus syndrome (BPES) is a rare autosomal dominant congenital disorder. Mutations in FOXL2, a gene located at 3q23, have been shown to cause the syndrome. We report a girl with BPES with a “de
Autor:
M.Fernández Guijarro, P. Cabello, M.Teresa Sordo, Purificación Garcia-Miguel, Concepcion Villalon, Rosario Hernaez, Carlos San Roman, M.Teresa Ferro, J.M. García-Sagredo, Javier Lopez, I Vallcorba
Publikováno v:
Cancer Genetics and Cytogenetics. 149:11-16
In two patients with hematological neoplasias a tandem repetition of chromosome 21 in the bone marrow was revealed by cytogenetic analysis. The disease was different in the two patients: one was of the lymphoid type, acute lymphoblastic leukemia type