A Novel Mutation of the Fibrillin Gene Causing Ectopia Lentis-Reference-Cited by-同舟云学术

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A Novel Mutation of the Fibrillin Gene Causing Ectopia Lentis

Published:1994-02 Issue:3 Volume:19 Page:573-576
ISSN:0888-7543
Container-title:Genomics
language:en
Short-container-title:Genomics

Author:

Lonnqvist L.,Child A.,Kainulainen K.,Davidson R.,Puhakka L.,Peltonen L.

Publisher

Elsevier BV

Subject

Genetics

Cited by 83 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. Genotype variant screening and phenotypic analysis of FBN1 in Chinese patients with isolated ectopia lentis;Molecular Medicine Reports;2021-02-10

2. Genotype FBN1 /phenotype relationship in a cohort of patients with Marfan syndrome;Clinical Genetics;2020-11-23

3. Skin fibroblasts of patients with geleophysic dysplasia due to FBN1 mutations have lysosomal inclusions and losartan improves their microfibril deposition defect;Molecular Genetics & Genomic Medicine;2019-07-27

4. FBN1 mutations largely contribute to sporadic non-syndromic aortic dissection;Human Molecular Genetics;2017-09-18

5. Oral manifestations of a rare variant of Marfan syndrome;Clinical Case Reports;2017-07-18

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