Biallelic MED29 variants cause pontocerebellar hypoplasia with cataracts
MED29双等位基因变异导致脑桥小脑发育不全伴白内障
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-025-01918-6
Arkush, Leo; van Woerden, Geeske M; Ziv, Limor; Marek-Yagel, Dina; Fonseca, Reginald; Brevé, Esmee; Barel, Ortal; Shalva, Nechama; Veber, Alvit; Anikster, Yair; Ben-Ami Raichman, Dominique; Musallam, Banan; Marcu, Shai; Nissenkorn, Andreea; Mandel, Hanna; Kushner, Steven A; Ben Zeev, Bruria; Heimer, Gali