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Article

Novel VIPAS39 mutation in a syndromic patient with arthrogryposis, renal tubular dysfunction and intrahepatic cholestasis.

European journal of medical genetics - 1 Apr 2016

Aflatounian Majid, Smith Holly, Farahani Fatemeh, Tofighi Naeem Azam, Straatman-Iwanowska Anna, Zoghi Samaneh, Khatri Urvi, Tajdini Parisa, Fallahi Gholam Hossein, Gissen Paul, Rezaei Nima

Abstract excerpt

ARC syndrome is a rare autosomal recessive disease, characterized by arthrogryposis, renal tubular dysfunction and cholestasis. Herein a 2.5 month old infant with dysmorphic features, including small anterior fontanel, low set ears, beaked nose and high arched palate is presented who was referred because of icterus. He also suffered from some additional anomalies, including unilateral choanal atresia, club foot,...

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Topics

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Share to Acidosis, Renal Tubular
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Cholestasis, Intrahepatic

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Share to Renal Insufficiency

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Source

Identifiers

PMID: 26808426
DOI: 10.1016/j.ejmg.2016.01.005

Genes

VIPAS39
ARC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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