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

Por Désir, Julie, Sznajer, Yves, Depasse, Fanny, Roulez, Françoise, Schrooyen, Marc, Meire, Françoise, Abramowicz, Marc
Publicado em 2010

Nonsyndromic bilateral and unilateral optic nerve aplasia: first familial occurrence and potential implication of CYP26A1 and CYP26C1 genes

Por Meire, Françoise, Delpierre, Isabelle, Brachet, Cecile, Roulez, Françoise, Van Nechel, Christian, Depasse, Fanny, Christophe, Catherine, Menten, Björn, De Baere, Elfride
Publicado em 2011

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

Por Lang, Elena, Koller, Samuel, Bähr, Luzy, Töteberg-Harms, Marc, Atac, David, Roulez, Françoise, Bahr, Angela, Steindl, Katharina, Feil, Silke, Berger, Wolfgang, Gerth-Kahlert, Christina
Publicado no Transl Vis Sci Technol (2020)