Microspherophakia
National Institutes of Health
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Latent transforming growth factor beta binding protein 2 (LTBP2) plays a critical role in the development of connective tissue…
Microspherophakia (MSP) is a rare condition of the crystalline lens characterized by increased anteroposterior diameter and…
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Homocystinuria caused by cystathionine-β-synthase deficiency is a genetic disorder with autosomal recessive…
Abstract Purpose: To present the results of the clinical and molecular analyses of a familial case of Wolfram Syndrome (WFS…
Microspherophakia seems to be the most specific feature of the Weill–Marchesani Syndrome, which could be due to mutations within…
A surgically obtained lens from a 66-year-old man with the Weill-Marchesani syndrome was examined histopathologically by light…
Chondrodysplasia punctata is a multisystem disorder, primarily involving the musculoskeletal system, skin, and eyes. Children…