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(University of Rome Tor Vergata), Eugenio Mercuri(Università Cattolica del Sacro Cuore), Domenica Battaglia(Università Cattolica del Sacro Cuore), Simona Gaudino(Università Cattolica del Sacro Cuore), Giovanni Vento(Neighborhood House), Chiara Veredice(Agostino Gemelli University Polyclinic), Luca Massimi(Universität Hamburg), Eloisa Tiberi(Università Cattolica del Sacro Cuore), Alessia Asaro(Center for Genomic Science), Ilaria Contaldo(Agostino Gemelli University Polyclinic), Domenico M. Romeo, Francesca Gallini(Università Cattolica del Sacro Cuore), Cristina Cereda(University of Milan)
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