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279 results
  1. Isolated ectopia lentis: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/isolated-ectopia-lentis
    ... Learn more about the genes associated with Isolated ectopia lentis ADAMTSL4 FBN1 Inheritance When isolated ectopia lentis is ...
  2. ADAMTSL4 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/adamtsl4
    ... filaments. Health Conditions Related to Genetic Changes Isolated ectopia lentis At least 15 mutations in the ADAMTSL4 gene have been found to cause isolated ectopia lentis. In this condition, the lens in one or ...
  3. FBN1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/fbn1
    ... tall stature. More About This Health Condition Isolated ectopia lentis More than 30 mutations in the FBN1 gene have been found to cause isolated ectopia lentis. In this condition, the lens in one or ...
  4. Weill-Marchesani Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1114
    ... semialdehyde synthase. Inheritance is autosomal recessive . Simple dominant ectopia lentis. Pathogenic variants in FBN1 have been identified in some families. Inheritance is autosomal dominant . Ectopia lentis and pupilae. In this condition the lens and ...
  5. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... health-condition-summary><health-condition-summary ><name >Isolated ectopia lentis</name><ghr-page >https://medlineplus.gov/genetics/condition/isolated-ectopia-lentis</ghr-page><text-list ><text ><text-role >description</ ...
  6. Marfan Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1335
    ... findings include myopia (the most common ocular feature); ectopia lentis (seen in approximately 60% of affected individuals); and ... following: Aortic root enlargement (Z-score ≥2.0) Ectopia lentis Demonstration of aortic root enlargement (Z-score ≥2. ...
  7. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... topic ><url >https://medlineplus.gov/genetics/condition/isolated-ectopia-lentis</url><title >Isolated ectopia lentis</title><other_names ><other_name >Congenital ectopia lentis</ ...
  8. pdf2016MeshTree.pdf 
    https://www.nlm.nih.gov/mesh/2016/download/2016MeshTree.pdf
    ... Blepharophimosis C11.250.110...........................................Coloboma C11.250.300...........................................Ectopia Lentis C11.250.390...........................................Fraser Syndrome C11.250.480........................................... ...
  9. 2019New_Mesh_Tree_Hierarchy.txt 
    https://www.nlm.nih.gov/.../download/2019New_Mesh_Tree_Hierarchy.txt
    ... Blepharophimosis C11.250.110 Coloboma C11.250.300 Ectopia Lentis C11.250.390 Fraser Syndrome C11.250.480 ... 510.598 Lens Subluxation C11.510.598.373 Ectopia Lentis C11.525 Ocular Hypertension C11.525.381 Glaucoma ...
  10. pdf2017MeshTreesWithChangesShown.pdf 
    https://www.nlm.nih.gov/.../2017MeshTreesWithChangesShown.pdf
    ... Eye Abnormalities Aniridia WAGR Syndrome Anophthalmos Blepharophimosis Coloboma Ectopia Lentis Fraser Syndrome Hydrophthalmos Microphthalmos Persistent Hyperplastic Primary Vitreous ...
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