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...

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Detalles Bibliográficos
Autores principales: Vogel, Ida, Ott, Peter, Lildballe, Dorte, Hamilton‐Dutoit, Stephen, Vilstrup, Hendrik, Grønbæk, Henning
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5494401/
https://www.ncbi.nlm.nih.gov/pubmed/28680603
http://dx.doi.org/10.1002/ccr3.981

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5494401/
https://www.ncbi.nlm.nih.gov/pubmed/28680603
http://dx.doi.org/10.1002/ccr3.981

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