Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4

Molecular Genetics & Genomic Medicine

  ^{1    1    1    2    2    3    3    4    4    4} 

[1] Department of Translational Medicine, Federico II University, Naples, Italy;Telethon Institute of Genetics and Medicine, Pozzuoli, Italy;Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania “Luigi Vanvitelli”, Naples, Italy;Telethon Institute of Genetics and Medicine, Pozzuoli, Italy;Telethon Institute of Genetics and Medicine, Pozzuoli, Italy;Department of Precision Medicine, University of Campania “Luigi Vanvitelli”, Naples, Italy;

关键词: Coffin–Siris syndrome;    retinitis pigmentosa;    SMARCA4;   

DOI  :  10.1002/mgg3.682

来源: publisher

【 授权许可】

Unknown