This protein is important for normal growth before and after birth, and it appears to be involved in the development of the eyes, heart, and skeleton. Houston, texas ectopia lentis is a common manifestation of three heritable systemic disorders. Mutations in the adamts10 and fbn1 genes can cause weill marchesani syndrome. Citations 0 references 0 this research hasnt been cited in any other publications. The adamts10 gene provides instructions for making a protein whose function is unknown. Weill marchesani syndrome wms is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of. Autosomal recessive inheritance means both copies of the gene in each cell have mutations. When weill marchesani syndrome is caused by mutations in the adamts10 gene, it has an autosomal recessive pattern of inheritance. Carol gonzalesgonzales, fatima deza becerra, franco leon. We waited for our turn behind the two people ahead of us. Since the description of this disease by weill and marchesani in 1932 and 1939 respectively. A critical analysis of information and communications.
Ocular complications in the weillmarchesani syndrome. The waiting room had a comforting atmosphere reminiscent of the ones back home. People with this syndrome are usually short in height and often have short fingers and limited joint movement, especially of the hands. Files are available under licenses specified on their description page. Weillmarchesani syndrome genetic and rare diseases. Weill marchesani syndrome is an inherited connective tissue disorder that mainly affects the bones and eyes. Assim como ja fizemos anteriormente, em massinicagliari e cagliari 2001, p.
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