Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I.

Autor: Riva M; Medical Genetics, Department of Medicine and Surgery, University of Parma, Parma, Italy., Martorana D; University Hospital of Parma, Parma, Italy., Uliana V; University Hospital of Parma, Parma, Italy., Caleffi E; Plastic Surgery, University Hospital of Parma, Parma, Italy., Boschi E; Plastic Surgery, University Hospital of Parma, Parma, Italy., Garavelli L; Medical Genetics Unit, Azienda USL-IRCCS, Reggio Emilia, Italy., Ponti G; Division of Clinical Pathology, University of Modena and Reggio Emilia, Modena, Italy., Sangiorgi L; Medical Genetics and Skeletal Rare Diseases, Istituto Ortopedico Rizzoli, Bologna, Italy., Graziano C; Medical Genetics, S. Orsola-Malpighi University Hospital, Bologna, Italy., Bigoni S; Medical Genetics, Ferrara University Hospital, Ferrara, Italy., Rocchetti LM; Medical Genetics, Maurizio Bufalini Hospital, Cesena, Italy., Madeo S; Pediatrics, University Hospital of Modena, Italy., Soli F; Medical Genetics, Santa Chiara Hospital, Trento, Italy., Grosso E; Medical Genetics, Città della Salute e della Scienza University Hospital, Torino, Italy., Carli D; Department of Public Health and Pediatric Sciences, University of Torino, Torino, Italy., Goldoni M; Statistics, Department of Medicine and Surgery, University of Parma, Parma, Italy., Pisani F; Children's Neuropsycological Services, Department of Medicine and Surgery, University of Parma, Parma, Italy., Percesepe A; Medical Genetics, Department of Medicine and Surgery, University of Parma, Parma, Italy.; University Hospital of Parma, Parma, Italy.

Publikováno v: Genes, chromosomes & cancer [Genes Chromosomes Cancer] 2022 Jan; Vol. 61 (1), pp. 10-21. Date of Electronic Publication: 2021 Sep 03.