Helicase-inactivating BRIP1 mutation yields Fanconi anemia with microcephaly and other congenital abnormalities

por Kamal, Lara, Pierce, Sarah B., Canavati, Christina, Rayyan, Amal Abu, Jaraysa, Tamara, Lobel, Orit, Lolas, Suhair, Norquist, Barbara M., Rabie, Grace, Zahdeh, Fouad, Levy-Lahad, Ephrat, King, Mary-Claire, Kanaan, Moien N.
Publicado 2020