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

Autor: Geilmann S; School of Medicine University of Utah Salt Lake City Utah USA., Solstad R; Department of Pediatrics University of Utah School of Medicine Salt Lake City Utah USA., Palmquist R; Division of Pediatric Neurology, Department of Pediatrics University of Utah School of Medicine Salt Lake City Utah USA.; Center for Personalized Medicine Primary Children's Hospital Salt Lake City Utah USA., Flores Daboub J; Division of Medical Genetics, Department of Pediatrics University of Utah School of Medicine Salt Lake City Utah USA., Botto LD; Division of Medical Genetics, Department of Pediatrics University of Utah School of Medicine Salt Lake City Utah USA., Grubb PH; Division of Neonatology, Department of Pediatrics University of Utah School of Medicine Salt Lake City Utah USA., Bonkowsky JL; Division of Pediatric Neurology, Department of Pediatrics University of Utah School of Medicine Salt Lake City Utah USA.; Center for Personalized Medicine Primary Children's Hospital Salt Lake City Utah USA., Longo N; Division of Medical Genetics, Department of Pediatrics University of Utah School of Medicine Salt Lake City Utah USA., Malone Jenkins S; Center for Personalized Medicine Primary Children's Hospital Salt Lake City Utah USA.; Division of Neonatology, Department of Pediatrics University of Utah School of Medicine Salt Lake City Utah USA.

Publikováno v: Clinical case reports [Clin Case Rep] 2023 Jan 19; Vol. 11 (1), pp. e6810. Date of Electronic Publication: 2023 Jan 19 (Print Publication: 2023).