Clinical aspects of Fanconi anemia individuals with the same mutation of FANCF identified by next generation sequencing

ConclusionThe systematic use of next generation sequencing will allow the recognition of individuals from rare complementation groups, a better definition of their clinical phenotypes, and consequently, an appropriate genetic counseling. Birth Defects Research (Part A), 2015. © 2015 Wiley Periodicals, Inc.

Source: Birth Defects Research Part A: Clinical and Molecular Teratology - June 2, 2015 Category: Perinatology & Neonatology Authors: Elena Nicchia, Francesco Benedicenti, 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 Tags: Original Research Article Source Type: research