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Case report: Novel insights into hemorrhagic destruction of the brain, subependymal calcification, and cataracts disease
INTRODUCTION: Pathogenic variants of the junctional adhesion molecule 3 (JAM3/JAM-C; OMIM#606871) is the cause of the rare recessive disorder called hemorrhagic destruction of the brain, subependymal calcification, and cataracts (HDBSCC, OMIM#613730) disease. A similar phenotype is universal, includ...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10534027/ https://www.ncbi.nlm.nih.gov/pubmed/37780041 http://dx.doi.org/10.3389/fped.2023.1178280 |