Whole Genome Sequencing Solves an Atypical Form of Bardet–Biedl Syndrome: Identification of Novel Pathogenic Variants of BBS9.

Autor: Stellacci, Emilia1 (AUTHOR) emilia.stellacci@iss.it, Niceta, Marcello2 (AUTHOR) marcello.niceta@opbg.net, Bruselles, Alessandro1 (AUTHOR) alessandro.bruselles@iss.it, Straface, Emilio1 (AUTHOR) strafaceemilio8@gmail.com, Tatti, Massimo1 (AUTHOR), Carvetta, Mattia2 (AUTHOR) mattia.carvetta@opbg.net, Mancini, Cecilia2 (AUTHOR) cecilia.mancini@opbg.net, Cecchetti, Serena3 (AUTHOR) serena.cecchetti@iss.it, Parravano, Mariacristina4 (AUTHOR) mariacristina.parravano@fondazionebietti.it, Barbano, Lucilla4 (AUTHOR) lucilla.barbano@fondazionebietti.it, Varano, Monica4 (AUTHOR) monica.varano@fondazionebietti.it, Tartaglia, Marco2 (AUTHOR) marco.tartaglia@opbg.net, Ziccardi, Lucia4 (AUTHOR) lucia.ziccardi@fondazionebietti.it, Cordeddu, Viviana1 (AUTHOR) lucia.ziccardi@fondazionebietti.it
Zdroj: International Journal of Molecular Sciences. Aug2024, Vol. 25 Issue 15, p8313. 13p.
Databáze: Academic Search Ultimate
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