Article
Description of four patients with TRIP11 variants expand the clinical spectrum of odontochondroplasia (ODCD) and demonstrate the existence of common variants.
European journal of medical genetics - 1 May 2021
Del Pino Mariana, Sanchez-Soler Maria José, Parrón-Pajares Manuel, Aza-Carmona Miriam, Heath Karen E, Fano Virginia
Abstract excerpt
More than two decades since the first clinical and radiological description of odontochondroplasia (ODCD) was reported, biallelic loss of function variants in the Thyroid hormone receptor interactor 11 gene (TRIP11) were identified, the same gene implicated in the lethal disorder achondrogenesis (ACG1A). Here we report the clinical and radiological follow-up of four ODCD patients, including two siblings and an...
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