(Clinic for Special Children) Researchers and clinicians through a multicenter collaboration have identified a novel multisystem disorder caused by bi-allelic variants in the CCDC47 gene. Their findings are reported in the American Journal of Human Genetics. In this study, detailed clinical characterization and functional studies were performed on four unrelated individuals with a complex multisystem disorder characterized by woolly hair, liver dysfunction, itchy skin, unusual facial features, low muscle tone, and global developmental delay.
from EurekAlert! - Social and Behavioral Science https://ift.tt/2TsBZmm
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