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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Neurol Sci
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Springer International Publishing 2021
Assuntos:
Brief Communication
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8295029/
https://ncbi.nlm.nih.gov/pubmed/34292449
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10072-021-05480-z
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados