A novel RAD51 variant resulting in Fanconi anemia identified in an infant with multiple congenital anomalies - PubMed (original) (raw)

Case Reports

. 2023 Jan 19;11(1):e6810.

doi: 10.1002/ccr3.6810. eCollection 2023 Jan.

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Case Reports

A novel RAD51 variant resulting in Fanconi anemia identified in an infant with multiple congenital anomalies

Shelby Geilmann et al. Clin Case Rep. 2023.

Abstract

Fanconi anemia, FA, is a rare, multi-system disease caused by pathogenic variants in DNA repair genes. We report a novel RAD51 variant in an infant with FA whose tracheobronchomalacia has not been described in FA. His severe presentation expands the phenotype of _RAD51_-associated FA, reported only in three patients previously.

Keywords: Fanconi anemia; RAD51 Recombinase; heterozygote; microcephaly; premature infant; tracheobronchomalacia; whole genome sequencing.

© 2023 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.

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Conflict of interest statement

The authors have no conflicts of interest to disclose.

References

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