Arthrogryposis, renal tubular acidosis and cholestasis (ARC) syndrome: two new cases and review.
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Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: from molecular genetics to clinical featuresMetazoan cell biology of the HOPS tethering complexAutosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification.ARC syndrome with high GGT cholestasis caused by VPS33B mutations.Recognition and diagnosis of neuro-ichthyotic syndromes.VPS33B and VIPAR are essential for epidermal lamellar body biogenesis and function.Identification of novel mutations in the VPS33B gene involved in arthrogryposis, renal dysfunction, and cholestasis syndrome.
P2860
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P2860
Arthrogryposis, renal tubular acidosis and cholestasis (ARC) syndrome: two new cases and review.
description
2005 nî lūn-bûn
@nan
2005 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2005年の論文
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2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Arthrogryposis, renal tubular ...... ome: two new cases and review.
@ast
Arthrogryposis, renal tubular ...... ome: two new cases and review.
@en
type
label
Arthrogryposis, renal tubular ...... ome: two new cases and review.
@ast
Arthrogryposis, renal tubular ...... ome: two new cases and review.
@en
prefLabel
Arthrogryposis, renal tubular ...... ome: two new cases and review.
@ast
Arthrogryposis, renal tubular ...... ome: two new cases and review.
@en
P2093
P1476
Arthrogryposis, renal tubular ...... ome: two new cases and review.
@en
P2093
Doris Taha
Maha Barbar
Naffaa Al-Harbi
Omar Abu-Sa'da
P304
P356
10.1097/00019605-200510000-00005
P577
2005-10-01T00:00:00Z