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

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...

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Detalles Bibliográficos
Autores principales: Geilmann, Shelby, Solstad, Rachel, Palmquist, Rachel, Flores Daboub, Josue, Botto, Lorenzo D., Grubb, Peter H., Bonkowsky, Josh L., Longo, Nicola, Malone Jenkins, Sabrina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9850852/
https://www.ncbi.nlm.nih.gov/pubmed/36698515
http://dx.doi.org/10.1002/ccr3.6810
Descripción
Sumario: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.

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