DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

Issue 01 · Volume 03 · March 2014 DOI: 10.1055/s-005-29732



Case Report

Rush, Eric T.; Caldwell, Kathleen S.; Kreikemeier, Rose M.; Lutz, Richard E.; Esposito, Paul W.: Osteogenesis imperfecta caused by PPIB mutation with severe phenotype and congenital hearing loss
Corradi, Massimiliano; Monti, Elena; Venturi, Giacomo; Gandini, Alberto; Mottes, Monica; Antoniazzi, Franco: The recurrent causal mutation for osteogenesis imperfecta type V occurs at a highly methylated CpG dinucleotide within the IFITM5 gene