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Article

RAD51 -Related Fanconi Anemia: Expanding the Phenotypic Spectrum and Strong Association With VACTERL.

Clinical genetics - 1 Mar 2026

Altintas Burak, Stacy Andrea, Gettinger Katie, Wilson David B, Shinawi Marwan S

Abstract excerpt

Fanconi anemia (FA) is a multiorgan disease caused by pathogenic variants in genes involved in the FA/BRCA DNA repair pathway. We report a 10-year-old female who presented with multiple congenital anomalies consistent with VACTERL (Vertebral anomalies, Anal atresia, Cardiac anomalies, Tracheoesophageal fistula, Esophageal/duodenal atresia, and Renal and Limb anomalies) and PHENOS (abnormal Pigmentation, small...

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Identifiers

PMID: 41017074
DOI: 10.1111/cge.70077

Genes

RAD51

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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