Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findings
Titel:
Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findings
Auteur:
Scala, Marcello Brigati, Giorgia Fiorillo, Chiara Nesti, Claudia Rubegni, Anna Pedemonte, Marina Bruno, Claudio Severino, Mariasavina Derchi, Maria Minetti, Carlo Santorelli, F. M.