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searching for Congenital hepatic fibrosis 3 found (11 total)

alternate case: congenital hepatic fibrosis

COACH syndrome (1,969 words) [view diff] exact match in snippet view article find links to article

condition. The siblings both presented with the symptoms of congenital hepatic fibrosis, choroidal colobomata, dysmorphic features, polycystic kidneys

TMEM67 (722 words) [view diff] exact match in snippet view article find links to article

67". Boichis H, Passwell J, David R, Miller H (January 1973). "Congenital hepatic fibrosis and nephronophthisis. A family study". Q. J. Med. 42 (165): 221–33

CC2D2A (611 words) [view diff] exact match in snippet view article find links to article

CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)". J. Med. Genet. 47 (1): 8–21. doi:10.1136/jmg.2009.067249.