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...

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Detalhes bibliográficos
Publicado no:J Biomed Sci
Main Authors: Kausar, Mehran, Siddiqi, Saima, Yaqoob, Muhammad, Mansoor, Sajid, Makitie, Outi, Mir, Asif, Khor, Chiea Chuen, Foo, Jia Nee, Anees, Mariam
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2018
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6240425/
https://ncbi.nlm.nih.gov/pubmed/30447692
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12929-018-0481-x
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