Article
A homozygous mutation in LTBP2 causes isolated microspherophakia.
Human genetics - 1 Oct 2010
Kumar Arun, Duvvari Maheswara R, Prabhakaran Venkatesh C, Shetty Jyoti S, Murthy Gowri J, Blanton Susan H
Abstract excerpt
Microspherophakia is an autosomal-recessive congenital disorder characterized by small spherical lens. It may be isolated or occur as part of a hereditary systemic disorder, such as Marfan syndrome, autosomal dominant and recessive forms of Weill-Marchesani syndrome, autosomal dominant glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome, autosomal dominant microspherophakia with hernia, and...
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