Can I read Okur-Chung Syndrome in Asian-Indian Patient on EtoBox?

Okur-Chung Syndrome in Asian-Indian Patient by goksueminseroglu is a document available to read on EtoBox.

What is Okur-Chung Syndrome in Asian-Indian Patient about?

This case report discusses an Asian-Indian patient diagnosed with Okur-Chung Syndrome (OCNDS), highlighting her clinical features and comparing them with previously reported cases. The patient exhibited mild intellectual disability and unique dysmorphic traits, including a frontal upsweep of hair and eversion of the lower eyelids, which expand the known phenotypic spectrum of OCNDS. Genetic analysis revealed a pathogenic variant in the CSNK2A1 gene, emphasizing the importance of detailed case documentation

Author

goksueminseroglu

Language

EN