Novel mutation G324C in WNT1 mapped in a large Pakistani family with severe recessively inherited Osteogenesis Imperfecta

Novel mutation G324C in WNT1 mapped in a large Pakistani family with severe recessively inherited Osteogenesis Imperfecta

Abstract Introduction Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous disease with skeletal fragility and variable extra-skeletal manifestations. To date several point mutations in 18 different genes causing different types of OI have been identified. Mutations in WNT1 com...

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Bibliographic Details
Main Authors: Mehran Kausar, Saima Siddiqi, Muhammad Yaqoob, Sajid Mansoor, Outi Makitie, Asif Mir, Chiea Chuen Khor, Jia Nee Foo, Mariam Anees
Format: Article
Language:English
Published: BMC 2018-11-01
Series:Journal of Biomedical Science
Subjects:
WNT signaling
Whole-exome sequencing
Osteoporosis
Osteogenesis imperfecta
Online Access:http://link.springer.com/article/10.1186/s12929-018-0481-x

Internet

http://link.springer.com/article/10.1186/s12929-018-0481-x

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