Open access
Jul 2026
Phenotype Dependent Segregation of a Novel EPS8 Variant for Hearing Loss and an HPDL Variant for Neurodevelopmental Disorders in a Complex Consanguineous Family
The mutational spectrum of EPS8 is expanded and the independent segregation of two autosomal recessive disorders within the complex consanguineous family is highlighted, resulting in distinct and blended phenotypes.
Bassam Jamalalail, Ahmed A. Khalifa, Bipin Balan et al.
· bioRxiv · 0 citations