The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193FBN1 mutations-Reference-Cited by-同舟云学术

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The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193FBN1 mutations

Published:2007 Issue:9 Volume:28 Page:928-928
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Comeglio Paolo,Johnson Philip,Arno Gavin,Brice Glen,Evans Alison,Aragon-Martin José,Silva Filipe Pereira da,Kiotsekoglou Anatoli,Child Anne

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Cited by 88 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. A Case of Marfan Syndrome With Congenital Hip Dysplasia and Spine Abnormality;Cureus;2024-04-03

2. Pathogenic variants affecting the TB5 domain of the fibrillin-1 protein: not only in geleophysic/acromicric dysplasias but also in Marfan syndrome;Journal of Medical Genetics;2024-03-08

3. Re-evaluation of a Fibrillin-1 Gene Variant of Uncertain Significance Using the ClinGen Guidelines;Annals of Laboratory Medicine;2023-10-16

4. A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndrome;European Journal of Human Genetics;2023-09-08

5. Genotype Impacts Axial Length Growth in Pseudophakic Eyes of Marfan Syndrome;Investigative Opthalmology & Visual Science;2023-07-21

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