A novel homozygous variant in JAM3 gene causing hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts (HDBSCC) with neonatal onset
Titel:
A novel homozygous variant in JAM3 gene causing hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts (HDBSCC) with neonatal onset
Auteur:
De Rose, Domenico Umberto Gallini, Francesca Battaglia, Domenica Immacolata Tiberi, Eloisa Gaudino, Simona Contaldo, Ilaria Veredice, Chiara Romeo, Domenico Marco Massimi, Luca Asaro, Alessia Cereda, Cristina Vento, Giovanni Mercuri, Eugenio Maria