about
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)COACH syndrome associated with multifocal liver tumors.Early detection of severe cholestatic hepatopathy in COACH syndrome.Dealing with congenital hepatic fibrosis? Remember COACH syndrome.Carbohydrate deficient glycoprotein syndrome type I: a cause of cerebellar vermis hypoplasia.
P2860
description
1996 nî lūn-bûn
@nan
1996 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
name
Renal insufficiency is a component of COACH syndrome.
@ast
Renal insufficiency is a component of COACH syndrome.
@en
Renal insufficiency is a component of COACH syndrome.
@nl
type
label
Renal insufficiency is a component of COACH syndrome.
@ast
Renal insufficiency is a component of COACH syndrome.
@en
Renal insufficiency is a component of COACH syndrome.
@nl
prefLabel
Renal insufficiency is a component of COACH syndrome.
@ast
Renal insufficiency is a component of COACH syndrome.
@en
Renal insufficiency is a component of COACH syndrome.
@nl
P2860
P1476
Renal insufficiency is a component of COACH syndrome.
@en
P2093
P2860
P304
P356
10.1002/(SICI)1096-8628(19960111)61:2<122::AID-AJMG3>3.0.CO;2-Z
P577
1996-01-01T00:00:00Z