Llwytho...
Novel Phenotype of Achondroplasia due to Biallelic FGFR3 Pathogenic Variants
Pathogenic variants in the fibroblast growth factor receptor 3 (FGFR3) gene are responsible for a broad spectrum of skeletal dysplasias, including achondroplasia (ACH). The classic phenotype of ACH is caused by two highly prevalent mutations, c.1138G>A and c.1138G>C (p.Gly380Arg). In the homoz...
Wedi'i Gadw mewn:
| Cyhoeddwyd yn: | Am J Med Genet A |
|---|---|
| Prif Awduron: | , , , , , , , |
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
2018
|
| Pynciau: | |
| Mynediad Ar-lein: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6121735/ https://ncbi.nlm.nih.gov/pubmed/30160829 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.38839 |
| Tagiau: |
Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!
|