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pro vyhledávání: '"R J, Sanz"'
Autor:
I J, Lorda-Sanchez, A J, Ibañez, R J, Sanz, M J, Trujillo, M E, Anabitarte, M E, Querejeta, M, Rodriguez de Alba, A, Gimenez, F, Infantes, C, Ramos, B, Garcia-Sandoval, C, Ayuso
Publikováno v:
Ophthalmic genetics. 21(3)
We present clinical and cytogenetic studies of a female patient affected with choroideremia, mild sensorineural deafness, and primary amenorrhea showing a balanced translocation between chromosomes X and 4. The breakpoint was precisely defined applyi