Associated Papers
A novel pathogenic mutation in TSPEAR associated with sensorineural hearing loss: a case report and review of the literature.
Ahmadkhani A et al.
Journal of Medical Case Reports, 2026
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM6_ESM.xlsx › Sheet1
TSPEAR S475TfsX79 mutation does not affect auditory function, tooth morphology or hair development in mice.
Du H et al.
Gene, 2025
Confirmation of a Phenotypic Entity for TSPEAR Variants in Egyptian Ectodermal Dysplasia Patients and Role of Ethnicity.
Rabie EA et al.
Genes, 2022
TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study.
Bowles B et al.
American Journal of Medical Genetics. Part A, 2021
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage
Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis.
Du R et al.
Human Genetics, 2018
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