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Article

A novel pathogenic mutation in TSPEAR associated with sensorineural hearing loss: a case report and review of the literature.

Journal of medical case reports - 4 Jan 2026

Ahmadkhani Alireza, Taherifard Erfan, Zoghi Sina, Jafari Khamirani Hossein, Ahmadkhani Mohammadreza, Dastgheib Seyed Alireza

Abstract excerpt

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 development; variants in thrombospondin type laminin G domain and epilepsy associated repeats have been shown to be associated with a variety of clinical presentations...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41486137
DOI: 10.1186/s13256-025-05761-7
PMCID: PMC12866589

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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