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...

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Detalles Bibliográficos
Autores principales: Abdallah Moady, Tameemi, Odeh, Marwan, Fedida, Ayalla, Segal, Zvi, Gruber, Maayan, Goldfeld, Moshe, Kalfon, Limor, Falik-Zaccai, Tzipora C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Pediatrics
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

Internet

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

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