Two siblings with Fanconi anemia (FANCQ, ERCC4/XPF) presenting with tumor‐mimicking lesions in the brain and acute neurological deterioration

ZC Özdemir, C Yarar, Ç Öztunalı, E Töret… - Pediatric Blood & …, 2024 - Wiley Online Library
The complementation Q group (FANCQ) subtype of Fanconi anemia (FA) caused by the
ERCC4/XPF mutation is very rare. Two siblings, aged 13 and 10 with Fanconi phenotypic …