1.
Clin Case Rep
; 11(1): e6810, 2023 Jan.
Artículo
en Inglés
| MEDLINE
| ID: mdl-36698515
RESUMEN
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.
2.
Neurology
; 68(8): 623; author reply 623, 2007 Feb 20.
Artículo
en Inglés
| MEDLINE
| ID: mdl-17310042