This website provides information on patients with mutations in the TBL1Xgene, including clinical data, molecular data, management and research options.
The condition caused by mutations in the TBL1Xgene is characterized by congenital central hypothyroidism and may be accompanied by mild to moderate sensorineural hearing loss .
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the TBL1Xgene.
Nitash Zwaveling-Soonawala, MD, PhD, Dept. Pediatric Endocrinology, Emma Children’s Hospital, Amsterdam UMC, Amsterdam, The Netherlands, n.zwaveling@amsterdamumc.nl
Paul van Trotsenburg, MD, PhD, Dept. Pediatric Endocrinology, Emma Children’s Hospital, Amsterdam UMC, Amsterdam, The Netherlands, a.s.vantrotsenburg@amsterdamumc.nl
TBL1X