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Last Updated: 10/31/2025
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Found 84 publications
Phenotypic heterogeneity in DYNC2H1-related short-rib thoracic dysplasia: antenatal indicators and postnatal outcomes.
Journal: Journal of medical genetics
Published: September 07, 2024
Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel MBTPS2 variant in Osteogenesis imperfecta.
Journal: Frontiers in endocrinology
Published: March 28, 2023
15q26.3 deletions distal to IGF1R cause growth retardation, congenital heart defect and skeletal anomalies: Case report and review of literature.
Journal: American journal of medical genetics. Part A
Published: March 10, 2023
Anterolateral congenital tibial bowing: case report.
Journal: Frontiers in pediatrics
Published: June 10, 2022
Fibrous Dysplasia of Radius Bone-excision and Fibula Graft: A Case Report.
Journal: Journal of orthopaedic case reports
Published: November 12, 2021
Congenital Metabolic Bone Disorders as a Cause of Bone Fragility.
Journal: International journal of molecular sciences
Published: September 07, 2021
Hypophosphatemic osteomalacia in neurofibromatosis 1 associated with intracranial gliomas and congenital renal agenesis: A rare case report and review of the literature.
Journal: Journal of orthopaedic case reports
Published: July 13, 2021
Long-term follow-up findings in a Turkish girl with osteogenesis imperfecta type XX caused by a homozygous MESD variant.
Journal: American journal of medical genetics. Part A
Published: July 11, 2021
Bilateral congenital pseudarthrosis of the tibia with neurofibromatosis type 1.
Journal: JPMA. The Journal of the Pakistan Medical Association
Published: June 06, 2021
Juvenile Paget's Disease: Report of a successful treatment throughout the complete growth of a patient with a missense TNFRSF11B mutation.
Journal: Joint bone spine
Published: April 22, 2021
Diaphyseal and Metaphyseal Modeling Defects-Clinical Findings and Identification of WRAP53 Deficiency in Craniometadiaphyseal Dysplasia.
Journal: Frontiers in genetics
Published: April 13, 2021
The vascular origins of antero-medial tibial bowing in congenital fibular deficiency.
Journal: Anatomical record (Hoboken, N.J. : 2007)
Published: August 07, 2020
Last Updated: 10/31/2025