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Paper Details

TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study.
Am J Med Genet A
10
2021
GJB2, GJB6, TMPRSS3, TSPEAR, TSPEAR disease, TSPEAR variants, ectodermal dysplasia, hearing loss, hearing-loss, nonsyndromic hearing loss, thrombospondin-type laminin G domain and epilepsy-associated repeats, tooth agenesis
Author NameAffiliation
Jennifer A SullivanDuke University
Kelly SchochDuke University
Bruno DallapiccolaMolecular Genetics and Functional Genomics Research Unit, Bambino Gesu Children's Hospital, IRCCS
Francesca Clementina RadioMolecular Genetics and Functional Genomics Research Unit, Bambino Gesu Children's Hospital, IRCCS
Vandana ShashiDuke University
Eric W KleeCenter for Individualized Medicine, Mayo Clinic
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Release 1.2