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Article

Novel FANCI mutations in Fanconi anemia with VACTERL association.

American journal of medical genetics. Part A - 1 Feb 2016

Savage Sharon A, Ballew Bari J, Giri Neelam, Chandrasekharappa Settara C, Ameziane Najim, de Winter Johan, Alter Blanche P

Abstract excerpt

Fanconi anemia (FA) is an inherited bone marrow failure syndrome caused by mutations in DNA repair genes; some of these patients may have features of the VACTERL association. Autosomal recessive mutations in FANCI are a rare cause of FA. We identified FANCI mutations by next generation sequencing in three patients in our FA cohort among several whose mutated gene was unknown. Four of the six mutations are novel...

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Identifiers

PMID: 26590883
DOI: 10.1002/ajmg.a.37461
PMCID: PMC7158112

Genes

FANCI

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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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