Genetic & Genomic MedicinemedRxivPreprint
Lack of the human choline transporter-like protein CTL2 causes hearing impairment and a rare red blood cell phenotype
Bérengère Koehl, Cédric Vrignaud, Mahmoud Mikdar…·Thierry Peyrard
The paper identifies CTL2 deficiency in humans causing hearing loss, arterial aneurysms, and epilepsy, while showing normal platelet function and erythropoiesis.
DOI 10.1101/2022.05.13.22273920