Joubert syndrome associated with multicystic kidney disease and hepatic fibrosis.
about
Liver and kidney disease in ciliopathiesThe Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndromeMolar tooth sign in Joubert syndrome: clinical, radiologic, and pathologic significance.Clinical features and revised diagnostic criteria in Joubert syndrome.Molecular pathology and genetics of congenital hepatorenal fibrocystic syndromesJoubert syndrome: review and report of seven new cases.Novel variant syndrome associated with congenital hepatic fibrosis.Prenatal MRI findings of polycystic kidney disease associated with holoprosencephaly.Cerebellar vermis hypoplasia in a patient with Bardet-Biedl syndrome.Ataxia, hyperpnoea and mental retardation: was it the molar tooth?Joubert syndrome: monozygotic twins with discordant phenotypes.Mortality in Joubert syndrome.
P2860
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P2860
Joubert syndrome associated with multicystic kidney disease and hepatic fibrosis.
description
1997 nî lūn-bûn
@nan
1997年の論文
@ja
1997年学术文章
@wuu
1997年学术文章
@zh
1997年学术文章
@zh-cn
1997年学术文章
@zh-hans
1997年学术文章
@zh-my
1997年学术文章
@zh-sg
1997年學術文章
@yue
1997年學術文章
@zh-hant
name
Joubert syndrome associated with multicystic kidney disease and hepatic fibrosis.
@en
Joubert syndrome associated with multicystic kidney disease and hepatic fibrosis.
@nl
type
label
Joubert syndrome associated with multicystic kidney disease and hepatic fibrosis.
@en
Joubert syndrome associated with multicystic kidney disease and hepatic fibrosis.
@nl
prefLabel
Joubert syndrome associated with multicystic kidney disease and hepatic fibrosis.
@en
Joubert syndrome associated with multicystic kidney disease and hepatic fibrosis.
@nl
P2093
P356
P1433
P1476
Joubert syndrome associated with multicystic kidney disease and hepatic fibrosis.
@en
P2093
P2888
P304
P356
10.1007/S004670050381
P577
1997-12-01T00:00:00Z