लोड हो रहा है...
Isolated congenital hepatic fibrosis associated with TMEM67 mutations: report of a new genotype–phenotype relationship
We report an otherwise healthy 32‐year‐old man with portal hypertension, variceal bleeding, and congenital hepatic fibrosis with ductal plate malformation. Genetic screening identified two TMEM67 mutations. Biallelic TMEM67 mutations are known to cause Joubert/Meckel syndrome or nephronopthisis with...
में बचाया:
| में प्रकाशित: | Clin Case Rep |
|---|---|
| मुख्य लेखकों: | , , , , , |
| स्वरूप: | Artigo |
| भाषा: | Inglês |
| प्रकाशित: |
John Wiley and Sons Inc.
2017
|
| विषय: | |
| ऑनलाइन पहुंच: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5494401/ https://ncbi.nlm.nih.gov/pubmed/28680603 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.981 |
| टैग : |
टैग जोड़ें
कोई टैग नहीं, इस रिकॉर्ड को टैग करने वाले पहले व्यक्ति बनें!
|