This website provides information on patients with mutations in the TXNL4A gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the TXNL4A gene is a multisystem disorder characterized by choanal atresia, short palpebral fissures, coloboma of the lower eyelids, sensorineural hearing loss.
Not all individuals with a mutation in the TXNL4A gene have these features.
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 TXNL4A gene.
William Newman, MD, PhD, Manchester Centre for Genomic Medicine, University of Manchester, Manchester, UK, firstname.lastname@example.org