Clinical and linkage study of a large family with simple ectopia lentis linked to FBN1-Reference-Cited by-同舟云学术

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Clinical and linkage study of a large family with simple ectopia lentis linked to FBN1

Published:1994-10-15 Issue:1 Volume:53 Page:65-71
ISSN:0148-7299
Container-title:American Journal of Medical Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Edwards M. J.,Challinor C. J.,Colley P. W.,Roberts J.,Partington M. W.,Hollway G. E.,Kozman H. M.,Mulley J. C.

Publisher

Wiley

Subject

Genetics (clinical)

Reference25 articles.

1. Autosomal recessive ectopia lentis in two Arab family pedigrees

2. Restriction sites containing CpG show a higher frequency of polymorphism in human DNA

3. Absence of hepatic molybdenum cofactor an inborn error of metabolism associated with lens dislocation

4. A BamHI polymorphism at the fibrillin (FBN) locus

Cited by 22 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Zonule-Associated Gene Variants in Isolated Ectopia Lentis and Glaucoma;Journal of Glaucoma;2023-03-20

2. A FBN1 mutation association with different phenotypes of Marfan syndrome in a Chinese family;Clinica Chimica Acta;2016-09

3. Evaluation and Management of the Patient with Subluxated Lenses;Practical Management of Pediatric Ocular Disorders and Strabismus;2016

4. Early onset ectopia lentis due to aFBN1mutation with non-penetrance;American Journal of Medical Genetics Part A;2015-04-21

5. Molecular pathogenesis and management strategies of ectopia lentis;Eye;2014-01-10

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