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pro vyhledávání: '"Avital Ben-Moshe"'
Autor:
Sharon Zeligson, Ephrat Levy-Lahad, Orit Lobel, Ariella Weinberg-Shukron, Michal Goldberg, Mary-Claire King, David Zangen, Tikva Shore, Mariana Rachmiel, Paul Renbaum, Suleyman Gulsuner, Rachel Kalifa, Offer Gerlitz, Amatzia Dreifuss, Tom Walsh, Avital Ben-Moshe, Reeval Segel
Publikováno v:
Yearbook of Paediatric Endocrinology.
The causes of ovarian dysgenesis remain incompletely understood. Two sisters with XX ovarian dysgenesis carried compound heterozygous truncating mutations in the BRCA2 gene that led to reduced BRCA2 protein levels and an impaired response to DNA dama