Early Onset Marfan Syndrome with multivalvular insufficiency: Report from a tertiary hospital in Tanzania, and a review of the recurrent c.7606G>A p.0 variant in FBN1-Reference-Cited by-同舟云学术

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Early Onset Marfan Syndrome with multivalvular insufficiency: Report from a tertiary hospital in Tanzania, and a review of the recurrent c.7606G>A p.0 variant in FBN1

Published:2022-11 Issue:11 Volume:65 Page:104576
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Mbwasi Ronald M.^ORCID,Maugeri Alessandra,Joel Helvi N.,Sadiq Adnan^ORCID,Ahmad Bilal^ORCID,Hamel Ben CJ.^ORCID

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference17 articles.

1. Detection of six novel FBN1 mutations in British patients affected by Marfan syndrome;Comeglio;Hum. Mutat.,2001

2. The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations;Comeglio;Hum. Mutat.,2007

3. Marfan syndrome;Dietz,2001

4. Wide mutation spectrum and frequent variant Ala27Thr of FBN1 identified in a large cohort of Chinese patients with sporadic TAAD;Guo;Sci. Rep.,2015

5. Application of dHPLC for mutation detection of the fibrillin-1 gene for the diagnosis of Marfan syndrome in a National Health Service Laboratory;Howarth;Genet. Test.,2007

Cited by 1 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-phenotype spectrum and prognosis of early-onset Marfan syndrome;BMC Pediatrics;2023-10-28

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