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fetal medullary cystic kidney disease

Thursday 13 May 2004

Etiology

- Joubert syndromes (7538263)

Associations

- hepatic ductal plate malformation (DPM) (congenital hepatic fibrosis) (7538263)

References

- Lewis, S. M. E.; Roberts, E. A.; Marcon, M. A.; Harvey, E.; Phillips, M. J.; Chuang, S. A.; Buncic, J. R.; Clarke, J. T. R. : Joubert syndrome with congenital hepatic fibrosis: an entity in the spectrum of oculo-encephalo-hepato-renal disorders. Am. J. Med. Genet. 52: 419-426, 1994. PubMed ID : 7538263