Article
Helicase-inactivating BRIP1 mutation yields Fanconi anemia with microcephaly and other congenital abnormalities.
Cold Spring Harbor molecular case studies - 1 Oct 2020
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
Abstract excerpt
Fanconi anemia is a genetically and phenotypically heterogeneous disorder characterized by congenital anomalies, bone marrow failure, cancer, and sensitivity of chromosomes to DNA cross-linking agents. One of the 22 genes responsible for Fanconi anemia is BRIP1, in which biallelic truncating mutations lead to Fanconi anemia group J and monoallelic truncating mutations predispose to certain cancers. However, of...
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