Two novel distinct COL1A2 mutations highlight the complexity of genotype–phenotype correlations in osteogenesis imperfecta and related connective tissue disorders

Author:

Reuter Miriam S.,Schwabe Georg C.,Ehlers Christian,Marschall Christoph,Reis André,Thiel Christian,Graul-Neumann Luitgard

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference12 articles.

1. Nosology and classification of genetic skeletal disorders: 2010 revision;Warman;Am. J. Med. Genet. Part A,2011

2. New perspectives on osteogenesis imperfecta;Forlino;Nat. Rev. Endocrinol.,2011

3. Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans;Marini;Hum. Mutat.,2007

4. Genotype-phenotype correlations in autosomal dominant osteogenesis imperfecta;Ben Amor;J. Osteoporosis,2011

5. Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen;Willing;Am. J. Hum. Genet.,1994

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