FANCC Dutch founder mutation in a Mennonite family from Tamaulipas, México

BACKGROUND: Fanconi anemia (FA) (OMIM #227650) is a rare hereditary disease characterized by genomic instability. The clinical phenotype involves malformations, bone marrow failure, and cancer predisposition. Genetic heterogeneity is a remarkable feature of FA; at least 22 FANC genes are known to co...

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Dettagli Bibliografici
Pubblicato in:Mol Genet Genomic Med
Autori principali: García‐de Teresa, Benilde, Frias, Sara, Molina, Bertha, Villarreal, María Teresa, Rodriguez, Alfredo, Carnevale, Alessandra, López‐Hernández, Gerardo, Vollbrechtshausen, Lilia, Olaya‐Vargas, Alberto, Torres, Leda
Natura: Artigo
Lingua:Inglês
Pubblicazione: John Wiley and Sons Inc. 2019
Soggetti:
Clinical Reports
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6565560/
https://ncbi.nlm.nih.gov/pubmed/31044565
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.710
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