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 )
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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
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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