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Article

Genotyping of fanconi anemia patients by whole exome sequencing: advantages and challenges.

PloS one - 1 Jan 2012

Knies Kerstin, Schuster Beatrice, Ameziane Najim, Rooimans Martin, Bettecken Thomas, de Winter Johan, Schindler Detlev

Abstract excerpt

Fanconi anemia (FA) is a rare genomic instability syndrome. Disease-causing are biallelic mutations in any one of at least 15 genes encoding members of the FA/BRCA pathway of DNA-interstrand crosslink repair. Patients are diagnosed based upon phenotypical manifestations and the diagnosis of FA is confirmed by the hypersensitivity of cells to DNA interstrand crosslinking agents. Customary molecular diagnostics has...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 23285130
DOI: 10.1371/journal.pone.0052648
PMCID: PMC3527584

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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