Disease: Bowing of long bones congenital
- <em>Cardiomyopathy associated 5</em> (<em>CMYA5</em>) implicated as a genetic risk factor for radial hemimelia in Siamese cats
- 15q26.3 deletions distal to IGF1R cause growth retardation, congenital heart defect and skeletal anomalies: Case report and review of literature
- A comparative evaluation of tibial metaphyseal-diaphyseal angle changes between physiologic bowing and Blount disease
- Axial deformities of the lower extremity in the frontal plane : From physiological development to pathological and possible long-term consequences
- Bilateral congenital pseudarthrosis of the tibia with neurofibromatosis type 1
- Combined massive allograft and intramedullary vascularized fibula transfer: the Capanna technique for treatment of congenital pseudarthrosis of the tibia
- Diaphyseal and Metaphyseal Modeling Defects-Clinical Findings and Identification of WRAP53 Deficiency in Craniometadiaphyseal Dysplasia
- Fibrous Dysplasia of Radius Bone-excision and Fibula Graft: A Case Report
- Hypophosphatemic osteomalacia in neurofibromatosis 1 associated with intracranial gliomas and congenital renal agenesis: A rare case report and review of the literature
- Investigating the role connective tissue fibroblasts play in the altered muscle anatomy associated with the limb abnormality, Radial Dysplasia
- Lengthening in congenital posteromedial bowing of tibia: a follow-up series at skeletal maturity
- Long-term follow-up findings in a Turkish girl with osteogenesis imperfecta type XX caused by a homozygous MESD variant
- Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants
- NOTCH2 related disorders: Description and review of the fetal presentation
- Radiological and histopathological features of short rib‑polydactyly syndrome type III and identification of two novel <em>DYNC2H1</em> variants
- Severe Thoracic and Spinal Bone Abnormalities in neurofibromatosis type 1
- Stüve-Wiedemann syndrome with multiple eruptive vellus hair cysts and clefted tongue
- The IFITM5 Ser40Leu variant can manifest as prenatal Caffey disease
- The vascular origins of antero-medial tibial bowing in congenital fibular deficiency