Loading...
X-linked dominant chondrodysplasia punctata with severe phenotype in a female fetus: A case report
RATIONALE: X-linked dominant chondrodysplasia punctata type 2 (CDPX2) is a condition involving facial, skin, and skeletal dysplasia as a result of a mutation in emopamil binding protein (EBP). It usually presents with mild symptoms in female patients but is fatal in male patients. PATIENT CONCERNS:...
Na minha lista:
| Udgivet i: | Medicine (Baltimore) |
|---|---|
| Main Authors: | , , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Wolters Kluwer Health
2019
|
| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6344186/ https://ncbi.nlm.nih.gov/pubmed/30608402 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000013850 |
| Tags: |
Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!
|