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

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

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...

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Bibliographic Details
Main Authors: Tameemi Abdallah Moady, Marwan Odeh, Ayalla Fedida, Zvi Segal, Maayan Gruber, Moshe Goldfeld, Limor Kalfon, Tzipora C. Falik-Zaccai
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-09-01
Series:Frontiers in Pediatrics
Subjects:
JAM3/JAM-C
HDBSCC
congenital cataracts
auditory neuropathy
brain hemorrhages
brain calcification
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2023.1178280/full

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https://www.frontiersin.org/articles/10.3389/fped.2023.1178280/full

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