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

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 compromise...

Descripción completa

Detalles Bibliográficos
Autores principales: Kausar, Mehran, Siddiqi, Saima, Yaqoob, Muhammad, Mansoor, Sajid, Makitie, Outi, Mir, Asif, Khor, Chiea Chuen, Foo, Jia Nee, Anees, Mariam
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6240425/
https://www.ncbi.nlm.nih.gov/pubmed/30447692
http://dx.doi.org/10.1186/s12929-018-0481-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6240425/
https://www.ncbi.nlm.nih.gov/pubmed/30447692
http://dx.doi.org/10.1186/s12929-018-0481-x

Ejemplares similares