MOJ
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Case Report Volume 10 Issue 1
A novel genetic interplay in marfan syndrome: a brief review of literature and presentation of a case
Tugce Nur Eralp, Seda Çelik, Akin Sevinc
Received: January 04, 2021 | Published: June 09, 2021
Abstract
Marfan syndrome (MFS) is an inherited connective tissue disorder with an autosomal dominant inheritance pattern and has an incidence rate of 4 – 17 per 100,000 births worldwide. Until recently, majority of the cases were attributed to mutations in genes such as FBN1 and FBN2, whereas interplay of numerous other genes has been recently documented. MFS is characterized by its effects on multiple organ systems such as cardiovascular, ocular and skeletal anomalies.
Keywords: homeostasis, animal, reproducible, blood, mechanism
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