Weill-Marchesani-like syndrome caused by an FBN1 mutation with low-penetrance
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
General Medicine,General Medicine
Reference5 articles.
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3. Cervical artery dissection expands the cardiovascular phenotype in FBN1-related Weill-Marchesani syndrome;Newell;Am J Med Genet A,2017
4. Splicing mutations in human genetic disorders: examples, detection, and confirmation;Anna;J Appl Genet,2018
5. A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis;Chandra;Invest Ophthalmol Vis Sci,2012
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