Identification of Three Novel FBN1 Mutations and Their Phenotypic Relationship of Marfan Syndrome

Date

2018-07-26

Author

KAYHAN, GÜLSÜM
ERGÜN, MEHMET ALİ
Ergun, Sezen Guntekin
KULA, SERDAR
PERÇİN, Ferda Emriye

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Background: Marfan syndrome (MS), a connective tissue disorder that affects ocular, skeletal, and cardiovascular systems, is caused by heterozygous pathogenic variants in FBN1. To date, over 1800 different pathogenic variants have been reported.

Subject Keywords

Genetics(clinical), General Medicine

URI

https://hdl.handle.net/11511/68208

Journal

GENETIC TESTING AND MOLECULAR BIOMARKERS

DOI

https://doi.org/10.1089/gtmb.2017.0286

Collections

Graduate School of Informatics, Article

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Citation Formats

G. KAYHAN, M. A. ERGÜN, S. G. Ergun, S. KULA, and F. E. PERÇİN, “Identification of Three Novel FBN1 Mutations and Their Phenotypic Relationship of Marfan Syndrome,” GENETIC TESTING AND MOLECULAR BIOMARKERS, pp. 474–480, 2018, Accessed: 00, 2020. [Online]. Available: https://hdl.handle.net/11511/68208.