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Results 1 - 4 of 4 for "Weill-Marchesani" syndrome 1
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  1. Weill-Marchesani syndrome 
    ... Testing Registry: Weill-Marchesani syndrome Genetic Testing Registry: Weill-Marchesani syndrome 1 Weill-Marchesani syndrome National Organization for Rare Disorders ( ...
    https://medlineplus.gov/genetics/condition/weill-marchesani-syndrome - Genetics
  2. FBN1 gene 
    ... frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome. J Med Genet. 2003 Jan;40(1):34-6. doi: 10.1136/jmg.40.1. ...
    https://medlineplus.gov/genetics/gene/fbn1 - Genetics
  3. ADAMTS10 gene 
    ... the heart defects occasionally seen in people with Weill-Marchesani syndrome. More About This ... type) with thrombospondin type 1 motif, 10 a disintegrin-like and metalloprotease domain ...
    https://medlineplus.gov/genetics/gene/adamts10 - Genetics
  4. Isolated ectopia lentis 
    ... of genetic syndromes such as Marfan syndrome and Weill-Marchesani syndrome. The prevalence of isolated ectopia lentis is unknown. ... adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus on patients with an isolated ...
    https://medlineplus.gov/genetics/condition/isolated-ectopia-lentis - Genetics