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Cataract "11," "syndromic," autosomal recessive
- ... Munier FL, Ostergaard E, Thompson DA, Rosenberg T. Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease. Am J Hum Genet. 2011 Mar 11;88(3):382-90. doi: 10.1016/j. ...
- ... Isolated coloboma can also be inherited in an autosomal recessive pattern, which means both copies of a gene ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of a mutated ...
