Skip To Main Content
Tunay Dogan on Muck Rack

Tunay Dogan

As seen in: Nature
Is this you? As a journalist, you can create a free Muck Rack account to customize your profile, list your contact preferences, and upload a portfolio of your best work. Claim your profile

Get in touch with Tunay

Contact Tunay, search articles and posts on X, monitor coverage, and track replies from one place.

Learn more about Muck Rack

Actions

Share this page

Is this you?

As a journalist, you can create a free Muck Rack account to customize your profile, list your contact preferences, and upload a portfolio of your best work.
Claim your profile

Articles

Identification and characterisation of a novel homozygous KDM5A variant associated with severe axial hypotonia, seizures, and cardiac anomalies

|
By Serdar Bozlak, Cuneyd Yavas, Yunus Emre Arvas, Yusuf Seflekci, Tunay Dogan
| Nature Verified
Abstract KDM5A is a critical chromatin-modifying enzyme with lysine-specific demethylase activity and is highly expressed in brain tissues. Biallelic pathogenic variants in KDM5A are linked to KDM5A-related neurodevelopmental disorders, a rare disorder involving significant cognitive and motor impairments. We conducted a clinical and genetic evaluation of a patient with severe neurodevelopmental delay.
Open in Who Shared Issue with article?
See all 1 articles