TUBB4B gene mutation in Leber phenotype of congenital amaurosis syndrome associated with early-onset deafness
Maasz A, Hadzsiev K, Ripszam R, Zsigmond A, Maka E, Knezy K, Lesch B, Nemeth A, Bene J, Galik B, Gyenesei A, Melegh B. . Eur J Med Genet. 2022 Apr;65(4):104471. doi: 10.1016/j.ejmg.2022.104471. Epub 2022 Feb 28. PMID: 35240325.