Genetic analysis of a novel <i>FBN1</i> mutation in a pediatric Marfan syndrome patient-Reference-Cited by-同舟云学术

Genetic analysis of a novel <i>FBN1</i> mutation in a pediatric Marfan syndrome patient

Published:2024-08-31 Issue:3 Volume:13 Page:178-184
ISSN:2186-361X
Container-title:Intractable & Rare Diseases Research
language:en
Short-container-title:IRDR

Author:

Zhang Xiangdong¹,Zhou Lixing²,Liu Jiao¹,Shan Qunda¹,Song Zhaoxia¹,Zhou Fang¹,Liu Lifang¹,Luo Xia¹

Affiliation:

1. Lishui Maternal and Child Health Care Hospital, Lishui, Zhejiang, China.

2. Department of Optometry and Ophthalmology College, Wenzhou Medical University, Wenzhou, Zhejiang, China.

Publisher

International Research and Cooperation Association for Bio & Socio-Sciences Advancement (IRCA-BSSA)

Link

https://www.jstage.jst.go.jp/article/irdr/13/3/13_2024.01029/_pdf

Reference17 articles.

1. 1. Kang XC, Xu Y, Lin AQ, Feng XC, Han X. Research progress on the relationship between FBN1 gene and Marfan syndrome and its related phenotypes. J Clin Internal Med. 2021; 38:724-727. (in Chinese)

2. 2. Xu S, Li L, Fu Y, Wang X, Sun H, Wang J, Han L, Wu Z, Liu Y, Zhu J, Sun L, Lan F, He Y, Zhang H. Increased frequency of FBN1 frameshift and nonsense mutations in Marfan syndrome patients with aortic dissection. Mol Genet Genomic Med. 2020; 8:e1041.

3. 3. Iskandar Z, Dodd M, Stuart G, Caputo M, Clayton T, Chin C, Gibb J, Child A, Aragon-Martin JA, Jin XY, Flather M, Huang JTJ, Choy AM. 5 Exaggerated elastin turnover in childhood and adolescence in Marfan syndrome-Correlation with age-New insights from the AIMS trial. Eur Heart J. 2021; 26:A4-A5.

4. 4. Rudagi BM, Rishabh J, Arif M, Namrata C, Shahbaaz N, Gaurav B. Management of unilateral temporomandibular joint ankylosis & orthomorphic correction in a patient with Marfan syndrome: A rare case report. Int J Surg Case Rep. 2020; 75:157-161.

5. 5. Grange T, Aubart M, Langeois M, Benarroch L, Arnaud P, Milleron O, Eliahou L, Gross MS, Hanna N, Boileau C, Gouya L, Jondeau G. Quantifying the genetic basis of Marfan syndrome clinical variability. Genes (Basel). 2020; 11:574.