Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease.
Gal A, Rau I, El Matri L, Kreienkamp HJ, Fehr S, Baklouti K, Chouchane I, Li Y, Rehbein M, Fuchs J, Fledelius HC, Vilhelmsen K, Schorderet DF, Munier FL, Ostergaard E, Thompson DA, Rosenberg T.
Gal A, et al. Among authors: kreienkamp hj.
Am J Hum Genet. 2011 Mar 11;88(3):382-90. doi: 10.1016/j.ajhg.2011.02.006.
Am J Hum Genet. 2011.
PMID: 21397065
Free PMC article.