FANCC Dutch founder mutation in a Mennonite family from Tamaulipas, México
Abstract 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 cooperate in a unique FA/BRCA repair pathway. A common rule on the mutations found in these genes is allelic heterogeneity, except for mutations known to have arisen from a founder effect like the FANCC c.67delG in the Dutch Mennonite Community. Here, we present an 11‐year‐old male patient, me... Mehr ...
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Dokumenttyp: | Artikel |
Erscheinungsdatum: | 2019 |
Reihe/Periodikum: | Molecular Genetics & Genomic Medicine ; volume 7, issue 6 ; ISSN 2324-9269 2324-9269 |
Verlag/Hrsg.: |
Wiley
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Schlagwörter: | Genetics (clinical) / Genetics / Molecular Biology |
Sprache: | Englisch |
Permalink: | https://search.fid-benelux.de/Record/base-27079772 |
Datenquelle: | BASE; Originalkatalog |
Powered By: | BASE |
Link(s) : | http://dx.doi.org/10.1002/mgg3.710 |