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A novel RAD51 variant resulting in Fanconi anemia identified in an infant with multiple congenital anomalies.
Geilmann, Shelby; Solstad, Rachel; Palmquist, Rachel; Flores Daboub, Josue; Botto, Lorenzo D; Grubb, Peter H; Bonkowsky, Josh L; Longo, Nicola; Malone Jenkins, Sabrina.
Affiliation
  • 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.
  • Flores Daboub J; Center for Personalized Medicine Primary Children's Hospital 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 Medical Genetics, Department of Pediatrics University of Utah School of Medicine Salt Lake City Utah USA.
  • Bonkowsky JL; Division of Neonatology, Department of Pediatrics University of Utah School of Medicine Salt Lake City Utah USA.
  • Longo N; Division of Pediatric Neurology, 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.
Clin Case Rep ; 11(1): e6810, 2023 Jan.
Article in En | MEDLINE | ID: mdl-36698515
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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Prognostic_studies Language: En Journal: Clin Case Rep Year: 2023 Document type: Article
Fulltext
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Prognostic_studies Language: En Journal: Clin Case Rep Year: 2023 Document type: Article