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10.1002/ccr3.981

http://scihub22266oqcxt.onion/10.1002/ccr3.981
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C5494401!5494401!28680603
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suck abstract from ncbi


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pmid28680603      Clin+Case+Rep 2017 ; 5 (7): 1098-102
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  • Isolated congenital hepatic fibrosis associated with TMEM67 mutations: report of a new genotype?phenotype relationship #MMPMID28680603
  • Vogel I; Ott P; Lildballe D; Hamilton?Dutoit S; Vilstrup H; Grønbæk H
  • Clin Case Rep 2017[Jul]; 5 (7): 1098-102 PMID28680603show ga
  • 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 hepatic fibrosis, but have never been found in isolated hepatic fibrosis.
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