Achondroplasia in Sweden caused by the G1 138A mutation in FGFR3
Author:
Publisher
Wiley
Subject
General Medicine,Pediatrics, Perinatology, and Child Health
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1651-2227.1996.tb13963.x/fullpdf
Reference11 articles.
1. A gene for achondroplasia–hypochondroplasia maps to chromosome 4p
2. The gene for achondroplasia maps to the telomeric region of chromosome 4p
3. Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia
4. Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia
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1. Review of published 467 achondroplasia patients: clinical and mutational spectrum;Orphanet Journal of Rare Diseases;2024-01-27
2. Achondroplasia and Other Dwarfisms;Youmans Neurological Surgery;2011
3. Detection of achondroplasia G380R mutation from PCR amplicons by using inosine modified carbon electrodes based on electrochemical DNA chip technology;Clinica Chimica Acta;2003-10
4. The Molecular and Genetic Basis of Fibroblast Growth Factor Receptor 3 Disorders: The Achondroplasia Family of Skeletal Dysplasias, Muenke Craniosynostosis, and Crouzon Syndrome with Acanthosis Nigricans;Endocrine Reviews;2000-02-01
5. The Molecular and Genetic Basis of Fibroblast Growth Factor Receptor 3 Disorders: The Achondroplasia Family of Skeletal Dysplasias, Muenke Craniosynostosis, and Crouzon Syndrome with Acanthosis Nigricans*;Endocrine Reviews;2000-02-01
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