A novel homozygous variant in JAM3 gene causing hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts (HDBSCC) with neonatal onset

Domenico Umberto De Rose, Francesca Gallini, Domenica Battaglia, Eloisa Tiberi, Simona Gaudino, Ilaria Contaldo, Chiara Veredice, Domenico M. Romeo, Luca Massimi, Alessia Asaro, Cristina Cereda, Giovanni Vento, Eugenio Mercuri