ABSTRACT
Mutlu M, Aslan Y, Aktürk-Acar F, Çakir M, Erduran E, Kalyoncu M. ARC syndrome. Turk J Pediatr 2017; 59 487-490. Arthrogryposis-renal dysfunction-cholestasis (ARC) is an autosomal recessive multisystem disorder characterized by arthrogryposis, renal tubular dysfunction and neonatal cholestasis with low gamma glutamyl transpeptidase activity. Most of the mutations in ARC syndrome are associated with the vacuolar protein sorting 33B (VPS33B) gene on chromosome 15q26.1. Herein, we report a female newborn with ARC syndrome caused by homozygous mutations in VPS33B [IVS1-2A > C (c.97-2A > C)].
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Artrogripose
/
Colestase
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Proteínas de Transporte Vesicular
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Insuficiência Renal
Tipo de estudo:
Diagnostic_studies
Limite:
Female
/
Humans
/
Newborn
Idioma:
En
Revista:
Turk J Pediatr
Ano de publicação:
2017
Tipo de documento:
Article