Wird geladen...
AXIN2-Associated Autosomal Dominant Ectodermal Dysplasia and Neoplastic Syndrome
We describe a family with a novel, inherited AXIN2 mutation (c.1989G>A) segregating in an autosomal dominant pattern with oligodontia and variable other findings including colonic polyposis, gastric polyps, a mild ectodermal dysplasia phenotype with sparse hair and eyebrows, and early onset color...
Gespeichert in:
| Hauptverfasser: | , , , , , |
|---|---|
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
2011
|
| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3094478/ https://ncbi.nlm.nih.gov/pubmed/21416598 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33927 |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|