Author

Mohammad Rajeh Aburaidah

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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