Maternal Mosaicism in SSBP1 Causing Optic Atrophy with Retinal Degeneration: Implications for Genetic Counseling

por Chang, Yin-Hsi, Kang, Eugene Yu-Chuan, Liu, Laura, Jenny, Laura A., Khang, Rin, Seo, Go Hun, Lee, Hane, Chen, Kuan-Jen, Wu, We-Chi, Hsiao, Meng-Chang, Wang, Nan-Kai
Publicado 2023

Case report: novel PCDH15 variant causes usher syndrome type 1F with congenital hearing loss and syndromic retinitis pigmentosa

por Chen, Nelson, Lee, Hane, Kim, Angela H., Liu, Pei-Kang, Kang, Eugene Yu-Chuan, Tseng, Yun-Ju, Seo, Go Hun, Khang, Rin, Liu, Laura, Chen, Kuan-Jen, Wu, We-Chi, Hsiao, Meng-Chang, Wang, Nan-Kai
Publicado 2022