Eye features in 3 Danish patients with Multi Systemic Smooth Muscle Dysfunction Syndrome

Por Moller, H.U., Fledelius, Hans C., Milemicz, Dianna M., Regalado, Ellen S., Ostergaard, John R.
Publicado no Br J Ophthalmol (2012)

Autosomal-Recessive Posterior Microphthalmos Is Caused by Mutations in PRSS56, a Gene Encoding a Trypsin-Like Serine Protease

Por Gal, Andreas, Rau, Isabella, El Matri, Leila, Kreienkamp, Hans-Jürgen, Fehr, Susanne, Baklouti, Karim, Chouchane, Ibtissem, Li, Yun, Rehbein, Monika, Fuchs, Josefine, Fledelius, Hans C., Vilhelmsen, Kaj, Schorderet, Daniel F., Munier, Francis L., Ostergaard, Elsebet, Thompson, Debra A., Rosenberg, Thomas
Publicado em 2011