A novel homozygous 5bp deletion in FKBP10 causes clinically Bruck syndrome in an Indonesian patient

Keyphrases

• Indonesian Patients 100%
• FKBP10 100%
• Bruck Syndrome 100%
• Joint Contracture 66%
• Homozygous Deletion 33%
• Initial Diagnosis 33%
• Bone Fragility 33%
• Mutation Analysis 33%
• Pedigree 33%
• Radiological Findings 33%
• Consanguineous 33%
• COL1A1 33%
• FKBP10 Gene 33%
• Recessive Variants 33%
• PLOD2 33%
• Affected Siblings 33%
• Osteogenesis Imperfecta Type III 33%

Medicine and Dentistry

• Osteogenesis Imperfecta 100%
• Joint Contracture 50%
• Clinical Finding 25%
• Pedigree 25%
• Radiological Finding 25%
• Bone Fragility 25%

Biochemistry, Genetics and Molecular Biology

• FKBP10 100%
• Bone Development 25%
• Pedigree 25%