• ARC syndrome: an expanding range of phenotypes
• Arthrogryposis, renal tubular dysfunction, cholestasis (ARC) syndrome: case report and review of the literature
• Arthrogryposis, renal tubular dysfunction, cholestasis, ichthyosis syndrome (ARCI)
• Fanconi syndrome, ichthyosis, dysmorphism, jaundice and diarrhoea--a new syndrome
• Fatal neonatal nephrocutaneous syndrome in 18 Roma children with EGFR deficiency
• Mutations to the rescue
• Nature of diverse molecular diseases in man
• Severe renal Fanconi and management strategies in Arthrogryposis-Renal dysfunction-Cholestasis syndrome: a case report