Uncovering an Unusual FBN1 Gene Mutation Responsible for Marfan Syndrome: A Case Study
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Springer Science and Business Media LLC
Reference14 articles.
1. The revised Ghent nosology for the Marfan syndrome;Loeys BL;J Med Genet,2010
2. Marfan syndrome: clinical diagnosis and management;Dean JC;Eur J Hum Genet,2007
3. Severe neonatal Marfan syndrome with a novel mutation in the intron of the FBN1 gene: a case report;Yoon SH;Medicine (Baltimore),2021
4. A previously undescribed pathogenic variant in FBN1 gene causing Marfan syndrome: a case report;Suliman A;Eur Heart J Case Rep,2022
5. Glaucoma in the Marfan syndrome;Izquierdo NJ;Trans Am Ophthalmol Soc,1992
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