Journal of medical case reports
A novel pathogenic mutation in TSPEAR associated with sensorineural hearing loss: a case report and review of the literature.
Alireza Ahmadkhani, Erfan Taherifard, Sina Zoghi, Hossein Jafari Khamirani, Mohammadreza Ahmadkhani, Seyed Alireza Dastgheib
Published: 202610.1186/s13256-025-05761-7
Abstract
BACKGROUND: Thrombospondin type laminin G domain and epilepsy associated repeats is a protein involved in the expression of genes associated with the Notch signaling pathway that have major roles in ectodermal differentiation and neural tissue develo…
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