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

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第一作者： Anita,Maasz

第一单位： Department of Medical Genetics, Clinical Centre and Medical School, University of Pecs, Pecs, H-7624, Hungary; Szentagothai Research Centre, Clinical Genetics and Genomics Research Group, University of Pecs, Pecs, H-7624, Hungary. Electronic address: maasz.anita@pte.hu.

作者： Anita,Maasz ^[1] ; Kinga,Hadzsiev ^[2] ; Reka,Ripszam ^[2] ; Anna,Zsigmond ^[2] ; Erika,Maka ^[3] ; Krisztina,Knezy ^[3] ; Balazs,Lesch ^[3] ; Adrienn,Nemeth ^[4] ; Judit,Bene ^[2] ; Bence,Galik ^[5] ; Attila,Gyenesei ^[5] ; Bela,Melegh ^[2]

作者单位： Department of Medical Genetics, Clinical Centre and Medical School, University of Pecs, Pecs, H-7624, Hungary; Szentagothai Research Centre, Clinical Genetics and Genomics Research Group, University of Pecs, Pecs, H-7624, Hungary. Electronic address: maasz.anita@pte.hu. ^[1] Department of Medical Genetics, Clinical Centre and Medical School, University of Pecs, Pecs, H-7624, Hungary; Szentagothai Research Centre, Clinical Genetics and Genomics Research Group, University of Pecs, Pecs, H-7624, Hungary. ^[2] Department of Ophthalmology, Semmelweis University, Budapest, H-1085, Hungary. ^[3] Department of Otorhinolaryngology, Clinical Centre and Medical School, University of Pecs, Pecs, H-7624, Hungary. ^[4] Bioinformatics Research Group, Genomics and Bioinformatics Core Facility, University of Pecs, Pecs, H-7624, Hungary. ^[5]

关键词 LCAEOD Leber congenital amaurosis syndrome NGS Sensorineural hearing loss TUBB4B