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Quoted phrase not found in phrase index: "Ectopia lentis 1, isolated, autosomal dominant"
Page 1
The molecular genetics of Marfan syndrome and related microfibrillopathies.
Robinson PN, Godfrey M. Robinson PN, et al. J Med Genet. 2000 Jan;37(1):9-25. doi: 10.1136/jmg.37.1.9. J Med Genet. 2000. PMID: 10633129 Free PMC article. Review.
Mutations in the gene for fibrillin-1 (FBN1) have been shown to cause Marfan syndrome, an autosomal dominant disorder of connective tissue characterised by pleiotropic manifestations involving primarily the ocular, skeletal, and cardiovascular systems. ...Fib …
Mutations in the gene for fibrillin-1 (FBN1) have been shown to cause Marfan syndrome, an autosomal dominant disorder o …
Identification of a novel FBN1 gene mutation in a large Pakistani family with Marfan syndrome.
Micheal S, Khan MI, Akhtar F, Weiss MM, Islam F, Ali M, Qamar R, Maugeri A, den Hollander AI. Micheal S, et al. Mol Vis. 2012;18:1918-26. Epub 2012 Jul 18. Mol Vis. 2012. PMID: 22876116 Free PMC article.
PURPOSE: To describe a novel mutation in the fibrillin-1 (FBN1) gene in a large Pakistani family with autosomal dominant Marfan syndrome (MFS). ...This mutation was present in all affected members and absent from unaffected individuals of the family in additi …
PURPOSE: To describe a novel mutation in the fibrillin-1 (FBN1) gene in a large Pakistani family with autosomal dominant …