Arc syndrome without arthrogryposis, with hip dislocation and renal glomerulocystic appearance: a case report.
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Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: from molecular genetics to clinical featuresGlomerulocystic kidney diseaseMetazoan cell biology of the HOPS tethering complexARC syndrome with high GGT cholestasis caused by VPS33B mutations.Glomerular involvement in the arthrogryposis, renal dysfunction and cholestasis syndrome.ARC syndrome in preterm baby.Identification of novel mutations in the VPS33B gene involved in arthrogryposis, renal dysfunction, and cholestasis syndrome.A novel splice-site mutation in the AAGAB gene segregates with hereditary punctate palmoplantar keratoderma and congenital dysplasia of the hip in a large family.
P2860
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P2860
Arc syndrome without arthrogryposis, with hip dislocation and renal glomerulocystic appearance: a case report.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 30 October 2008
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Arc syndrome without arthrogry ...... tic appearance: a case report.
@en
Arc syndrome without arthrogry ...... tic appearance: a case report.
@nl
type
label
Arc syndrome without arthrogry ...... tic appearance: a case report.
@en
Arc syndrome without arthrogry ...... tic appearance: a case report.
@nl
prefLabel
Arc syndrome without arthrogry ...... tic appearance: a case report.
@en
Arc syndrome without arthrogry ...... tic appearance: a case report.
@nl
P2093
P1476
Arc syndrome without arthrogry ...... tic appearance: a case report.
@en
P2093
Arzu Meltem Yusufoğlu
Ebru Arhan
Tülin Revide Sayli
P2888
P304
P356
10.1007/S00431-008-0860-5
P577
2008-10-30T00:00:00Z