Načítá se...
A VPS13B mutation in Cohen syndrome presented with petechiae: An unusual presentation
Cohen syndrome (CS) is a rare autosomal recessive disorder. CS includes a range of clinical symptoms including retinal dystrophy and myopia. The new VPS13B mutation could cause CS‐induced neutropenia and petechiae in patients with CS.
Uloženo v:
| Vydáno v: | Clin Case Rep |
|---|---|
| Hlavní autoři: | , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
John Wiley and Sons Inc.
2021
|
| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8301562/ https://ncbi.nlm.nih.gov/pubmed/34322253 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.4492 |
| Tagy: |
Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!
|