Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants
Usher 综合征 IV 型:通过新型 ARSG 变异体得到临床和分子学证实
期刊:Human Genetics
影响因子:3.8
doi:10.1007/s00439-022-02441-0
Hedwig M Velde, Janine Reurink, Sebastian Held, Catherina H Z Li, Suzanne Yzer, Jaap Oostrik, Jack Weeda, Lonneke Haer-Wigman, Helger G Yntema, Susanne Roosing, Laurenz Pauleikhoff, Clemens Lange, Laura Whelan, Adrian Dockery, Julia Zhu, David J Keegan, G Jane Farrar, Hannie Kremer #, Cornelis P Lan