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

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 mutatio...

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Detalles Bibliográficos
Autores principales:	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.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cold Spring Harbor Laboratory Press 2020
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7552932/ https://www.ncbi.nlm.nih.gov/pubmed/33028645 http://dx.doi.org/10.1101/mcs.a005652

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