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Clinical aspects of Fanconi anemia individuals with the same mutation of FANCF identified by next generation sequencing |
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| Authors: | Daniela De Rocco Chiara Greco Roberta Bottega Francesca Inzana Michela Faleschini Serena Bonin Enrico Cappelli Massimo Mogni Franco Stanzial Johanna Svahn Carlo Dufour Anna Savoia |
| Affiliation: | 1. Institute for Maternal and Child Health – IRCCS Burlo Garofolo, Trieste, Italy;2. Genetic Counseling Service, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano, Italy;3. Department of Medical Sciences, University of Trieste, Trieste, Italy;4. Clinical and Experimental Hematology Unit, G. Gaslini Children's Hospital, Genoa, Italy;5. Human Genetics Laboratory “E.O. Ospedali Galliera”, Genoa, Italy |
| Abstract: | |
| Keywords: | Fanconi anemia FANCF genetic heterogeneity VACTERL‐H association next generation sequencing |