VPS33B mutation with ichthyosis, cholestasis, and renal dysfunction but without arthrogryposis: Incomplete ARC syndrome phenotype

This publication has 8 references indexed in Scilit:

• Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: A tight junction disease
  Gastroenterology, 2004
• Steatohepatitis and unsuspected micronodular cirrhosis in Dorfman-Chanarin syndrome with documented ABHD5 mutation
  The Journal of Pediatrics, 2004
• Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome
  Nature Genetics, 2004
• Mutations of the PDS Gene, Encoding Pendrin, Are Associated with Protein Mislocalization and Loss of Iodide Efflux: Implications for Thyroid Dysfunction in Pendred Syndrome
  Journal of Clinical Endocrinology & Metabolism, 2002
• ARC syndrome: an expanding range of phenotypes
  Archives of Disease in Childhood, 2001
• Cerebral defects and nephrogenic diabetes insipidus with the ARC syndrome: Additional findings or a new syndrome (ARCC-NDI)?
  American Journal of Medical Genetics, 1997
• Keratitis, hepatitis, ichthyosis, and deafness: Report and review of KID syndrome
  American Journal of Medical Genetics, 1991
• A lethal familial syndrome associating arthrogryposis multiplex congenita, renal dysfunction, and a cholestatic and pigmentary liver disease
  The Journal of Pediatrics, 1979