Case report: Novel insights into hemorrhagic destruction of the brain, subependymal calcification, and cataracts disease

• Main Authors: Tameemi Abdallah Moady (Author), Marwan Odeh (Author), Ayalla Fedida (Author), Zvi Segal (Author), Maayan Gruber (Author), Moshe Goldfeld (Author), Limor Kalfon (Author), Tzipora C. Falik-Zaccai (Author)
• Format: Book
• Published: Frontiers Media S.A., 2023-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

IntroductionPathogenic 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, includin...