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 a...

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Veröffentlicht in:	Neurological sciences 2021-11, Vol.42 (11), p.4759-4765
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Age Brief Communication Calcification Cataracts Chromosome 11 DNA sequencing Encephalopathy Epilepsy Fetuses Genetic counseling Hemorrhage Medicine Medicine & Public Health Neonates Neurology Neuroradiology Neurosciences Neurosurgery Prenatal diagnosis Psychiatry
Online-Zugang:	Volltext
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