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

2018-07-26
KAYHAN, GÜLSÜM
ERGÜN, MEHMET ALİ
Ergun, Sezen Guntekin
KULA, SERDAR
PERÇİN, Ferda Emriye
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.
GENETIC TESTING AND MOLECULAR BIOMARKERS

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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.