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- Title
A Rare Case of Cholestasis: Arthrogryposis, Renal Tubular Disorder and Cholestasis Syndrome.
- Authors
Türkmenoğlu, Yelda; Acar, Yeşim; Özdemir, Fatih Cemal; Singer, Ralfi; Berdeli, Afig; Adal, Servet Erdal
- Abstract
Arthrogryposis, renal tubular dysfunction and cholestasis (ARC) syndrome is a rare, autosomal recessive multisystem disorder. Severe growth retardation, ichthyosis, recurrent febrile disease, platelet abnormalities, sensorineural hearing loss, hypotonia and corpus callosum dysgenesis were later included as further features of this syndrome. We present a case of ARC syndrome diagnosed by genetic analysis.
- Subjects
ARTHROGRYPOSIS; CHOLESTASIS; GENETIC testing; FANCONI syndrome; DIAGNOSIS
- Publication
Journal of Pediatric Research, 2018, Vol 5, Issue 3, p1
- ISSN
2147-9445
- Publication type
Article
- DOI
10.4274/jpr.38257