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

BACKGROUND: JAM3 gene, located on human chromosome 11q25, encodes a member of the junctional adhesion molecule (JAM) family. Mutations of this gene are associated with hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts (HDBSCC). CASE REPORT: Herein, we present...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2021
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8295029/
https://www.ncbi.nlm.nih.gov/pubmed/34292449
http://dx.doi.org/10.1007/s10072-021-05480-z

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