Wird geladen...
Hermansky-Pudlak Syndrome in Two African-American Brothers
Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by oculocutaneous albinism, a bleeding disorder, and, in some patients, granulomatous colitis and/or a fatal pulmonary fibrosis. There are eight different subtypes of HPS, each due to mutations in one of eight different...
Gespeichert in:
| Hauptverfasser: | , , , , , , , , , |
|---|---|
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
2009
|
| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2788939/ https://ncbi.nlm.nih.gov/pubmed/19334085 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.32757 |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|