Wird geladen...
A novel S269C mutation in fibroblast growth factor receptor 3 in a Japanese child with hypochondroplasia
Functionally activating mutations in fibroblast growth factor receptor 3 (FGFR3) can cause four types of autosomal dominant skeletal dysplasia with short-limbed dwarfism that include the mildest phenotype, hypochondroplasia (HCH). A novel mutation (c.805A>T, p.S269C) was identified in a Japanese...
Gespeichert in:
| Veröffentlicht in: | Hum Genome Var |
|---|---|
| Hauptverfasser: | , , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Nature Publishing Group UK
2018
|
| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5933720/ https://ncbi.nlm.nih.gov/pubmed/29736252 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-018-0001-2 |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|