Hypochondroplasia gain-of-function mutation in FGFR3 causes defective bone mineralization in mice

Hypochondroplasia (HCH) is a mild dwarfism caused by missense mutations in fibroblast growth factor receptor 3 (FGFR3), with the majority of cases resulting from a heterozygous p.Asn540Lys gain-of-function mutation. Here, we report the generation and characterization of the first mouse model (Fgfr3(...

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Detalles Bibliográficos
Autores principales: Loisay, Léa, Komla-Ebri, Davide, Morice, Anne, Heuzé, Yann, Viaut, Camille, de La Seiglière, Amélie, Kaci, Nabil, Chan, Danny, Lamouroux, Audrey, Baujat, Geneviève, Bassett, J.H. Duncan, Williams, Graham R., Legeai-Mallet, Laurence
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10371252/
https://www.ncbi.nlm.nih.gov/pubmed/37345656
http://dx.doi.org/10.1172/jci.insight.168796

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10371252/
https://www.ncbi.nlm.nih.gov/pubmed/37345656
http://dx.doi.org/10.1172/jci.insight.168796

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