Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans

Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance

(2011) Shawna M Pyott et al.   GENETICS IN MEDICINE

FKBP10 and Bruck Syndrome: Phenotypic Heterogeneity or Call for Reclassification?

(2010) Ranad Shaheen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification of a Frameshift Mutation in Osterix in a Patient with Recessive Osteogenesis Imperfecta

(2010) Pablo Lapunzina et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta

(2010) Yasemin Alanay et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Homozygosity for a Missense Mutation in SERPINH1, which Encodes the Collagen Chaperone Protein HSP47, Results in Severe Recessive Osteogenesis Imperfecta

(2010) Helena E. Christiansen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Osteogenesis imperfecta with congenital joint contractures (Bruck Syndrome)

(2010) Denis Viljoen et al.   CLINICAL GENETICS

Mutations in FKBP10 cause recessive osteogenesis imperfecta and bruck syndrome

(2010) Brian P Kelley et al.   JOURNAL OF BONE AND MINERAL RESEARCH

PPIB Mutations Cause Severe Osteogenesis Imperfecta

(2009) Fleur S. van Dijk et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Bruck syndrome: osteogenesis imperfecta and arthrogryposis multiplex congenita

(2009) H. Yapicioğlu et al.   ANNALS OF TROPICAL PAEDIATRICS

A Missense Mutation in the SERPINH1 Gene in Dachshunds with Osteogenesis Imperfecta

(2009) Cord Drögemüller et al.   PLoS Genetics

The Rough Endoplasmic Reticulum-resident FK506-binding Protein FKBP65 Is a Molecular Chaperone That Interacts with Collagens

(2008) Yoshihiro Ishikawa et al.   JOURNAL OF BIOLOGICAL CHEMISTRY