Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations

Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations

Autosomal recessive osteogenesis imperfecta (AR-OI) is an inherited condition which in recent years has been shown with increasing genetic and clinical heterogeneity. In this article, we performed clinical assessment and sought mutations in patients from 10 unrelated families with AR-OI, one of whom...

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Bibliographic Details
Main Authors: Caparrós-Martín, Jose, Valencia, M., Pulido, V., Martínez-Glez, V., Rueda-Arenas, I., Amr, K., Farra, C., Lapunzina, P., Ruiz-Perez, V., Temtamy, S., Aglan, M.
Format: Journal Article
Published: John Wiley & Sons, Inc. 2013
Online Access:http://hdl.handle.net/20.500.11937/67978

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