日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Exome Sequencing in a Swiss Childhood Glaucoma Cohort Reveals CYP1B1 and FOXC1 Variants as Most Frequent Causes

瑞士儿童青光眼队列的外显子组测序显示,CYP1B1和FOXC1变异是最常见的致病因素

Lang, Elena; Koller, Samuel; Bähr, Luzy; Töteberg-Harms, Marc; Atac, David; Roulez, Françoise; Bahr, Angela; Steindl, Katharina; Feil, Silke; Berger, Wolfgang; Gerth-Kahlert, Christina

LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma

LTBP2基因无义突变导致一种常染色体隐性遗传性眼病,表现为巨角膜、球形晶状体和继发性青光眼

Désir, Julie; Sznajer, Yves; Depasse, Fanny; Roulez, Françoise; Schrooyen, Marc; Meire, Françoise; Abramowicz, Marc