TUBB4B gene mutation in Leber phenotype of congenital amaurosis syndrome associated with early-onset deafness

Maasz, Anita ✉ [Maász, Anita (Genetika), author] Department of Medical Genetics (UP / UPMS); Clinical Genetics and Genomics Research Group (UP / SZRC); Hadzsiev, Kinga [Hadzsiev, Kinga (Genetika), author] Department of Medical Genetics (UP / UPMS); Clinical Genetics and Genomics Research Group (UP / SZRC); Ripszam, Reka [Ripszám, Réka (Genetika), author] Department of Medical Genetics (UP / UPMS); Clinical Genetics and Genomics Research Group (UP / SZRC); Zsigmond, Anna [Zsigmond, Anna (Klinikai genetika), author] Department of Medical Genetics (UP / UPMS); Clinical Genetics and Genomics Research Group (UP / SZRC); Maka, Erika [Maka, Erika (Szemészet), author] Department of Ophthalmology (SU / FM / C); Knezy, Krisztina [Knézy, Krisztina (szemészet), author] Department of Ophthalmology (SU / FM / C); Lesch, Balazs [Lesch, Balázs (Szemészet), author] Department of Ophthalmology (SU / FM / C); Nemeth, Adrienn [Németh, Adrienn (Fül-orr-gégészet), author] ENT Department (Department of Oto-rhino-laryngo... (UP / UPMS); Bene, Judit [Bene, Judit (Klinikai genetika), author] Department of Medical Genetics (UP / UPMS); Clinical Genetics and Genomics Research Group (UP / SZRC); Galik, Bence [Gálik, Bence (bioinformatika), author] Szentágothai Research Centre (UP); Bioinformatics research group (UP / RG); Gyenesei, Attila [Gyenesei, Attila (Informatika, Bioi...), author] Szentágothai Research Centre (UP); Bioinformatics research group (UP / RG); Melegh, Bela [Melegh, Béla (Genetika, gyermek...), author] Department of Medical Genetics (UP / UPMS); Clinical Genetics and Genomics Research Group (UP / SZRC)

Fundings:

• (GINOP-2.3.2-15-2016-00039)
• (K138669) Funder: HSRF