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
Exome sequencing identifies novel variants associated with non-syndromic hearing loss in the Iranian population.
Vallian Broojeni J et al.
Plos One, 2023
Rethinking the Genetic Etiology of Nonsyndromic Tooth Agenesis.
Letra A
Current Osteoporosis Reports, 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
Genetic screening as an adjunct to universal newborn hearing screening: literature review and implications for non-congenital pre-lingual hearing loss.
D'Aguillo C et al.
International Journal of Audiology, 2019
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
Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis.
Peled A et al.
Plos Genetics, 2016
Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness.
Delmaghani S et al.
Human Molecular Genetics, 2012
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