In silico analysis of mutation spectrum of Ehlers–Danlos, osteogenesis imperfecta, and cutis laxa overlapping phenotypes in Iranian population

Abstract Background Ehlers–Danlos syndrome (EDS), osteogenesis imperfecta (OI), and cutis laxa (CL) are three rare and heterogeneous connective tissue disorders. Patients with these syndromes have similar manifestations and unpredictable prognosis, making a misdiagnosis highly probable. Some of thei...

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Bibliographic Details
Published in:Egyptian Journal of Medical Human Genetics
Main Authors: Teymoor Khosravi, Karim Naghipoor, Fatemeh Vaghefi, Ali Mohammad Falahati, Morteza Oladnabi
Format: Article
Language:English
Published: SpringerOpen 2024-01-01
Subjects:
Ehlers–Danlos syndrome
Osteogenesis imperfecta
Cutis laxa
Genetic database
Mutations
Genetic testing
Online Access:https://doi.org/10.1186/s43042-024-00479-5

Internet

https://doi.org/10.1186/s43042-024-00479-5

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