
A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis?
Gotta, Fabio, Lamp, Merit, Geroldi, Alessandro, Trevisan, Lucia, Origone, Paola, Fugazza, Giuseppina, Fabbri, Sabrina, Nesti, Claudia, Rubegni, Anna, Morani, Federica, Santorelli, Filippo Maria, BelloJournal:
Annals of Human Genetics
DOI:
10.1111/ahg.12384
Date:
April, 2020
Fichier:
PDF, 595 KB
2020