Associated Papers
Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome.
McInerney-Leo AM et al.
Bonekey Reports, 2013
Osteogenesis Imperfecta: the audiological phenotype lacks correlation with the genotype.
Swinnen FK et al.
Orphanet Journal of Rare Diseases, 2011
22206639 (PubMed )
Supplement: 1750-1172-6-88-S1.PDF
Mutations in COL1A1 of type I collagen genes in Chinese patients with osteogenesis imperfecta.
Wang Z et al.
Journal of Investigative Medicine : the Official Publication of the American Federation for Clinical Research, 2009
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