Advances in understanding etiology of achondroplasia and review of management
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
Pediatrics, Perinatology, and Child Health
Reference51 articles.
1. The birth prevalence rates for the skeletal dysplasias;Orioli;J Med Genet,1986
2. A gene for achondroplasia–hypochondroplasia maps to chromosome 4p;Le Merrer;Nat Genet,1994
3. The gene for achondroplasia maps to the telomeric region of chromosome 4p;Velinov;Nat Genet,1994
4. Localization of the achondroplasia gene to the distal 2.5 Mb of human chromosome 4p;Francomano;Hum Mol Genet,1994
5. Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia;Shiang;Cell,1994
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1. Mutational analysis of consanguineous families and their targeted therapy against dwarfism;Journal of Biomolecular Structure and Dynamics;2024-02-07
2. Real-world evidence in achondroplasia: considerations for a standardized data set;Orphanet Journal of Rare Diseases;2023-06-26
3. Preterm birth risk in women with skeletal dysplasias and short stature;Journal of Pediatric Rehabilitation Medicine;2022-12-29
4. Fracture neck of femur in severe coxa-vara – Challenging management in an Achondroplasia patient;IP International Journal of Orthopaedic Rheumatology;2022-07-15
5. Sagittal alignment at 3 years old determines future thoracolumbar kyphosis in achondroplasia: A prospective study with minimum 5-year follow-up from infancy;North American Spine Society Journal (NASSJ);2021-06
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