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The expanding phenotype of cystic fibrosis

Janine M Smith and Edwin P E Kirk
Med J Aust 2004; 181 (9): . || doi: 10.5694/j.1326-5377.2004.tb06415.x
Published online: 1 November 2004

Janine M Smith,* Edwin P E Kirk


  • 1 Department of Clinical Genetics, The Children’s Hospital at Westmead, Westmead, NSW
  • 2 Department of Medical Genetics, Sydney Children’s Hospital, Randwick, NSW.


Correspondence: kirked@sesahs.nsw.gov.au

  • 1. Kulczycki L, Kostuch M, Bellanti JA. Clinical perspective of cystic fibrosis and new genetic findings: relationship of CFTR mutations to genotype-phenotype manifestations. Am J Med Genet 2003; 116A: 262-267.
  • 2. Kirk JM, Keston M, McIntosh I, Al Essa S. Variation of sweat sodium and chloride with age in cystic fibrosis and normal populations: further investigation in equivocal cases. Ann Clin Biochem 1992; 29: 145-152.
  • 3. Kiesewetter S, Macek M Jr, Davis C, et al. A mutation in CFTR produces different phenotypes depending on chromosomal background. Nat Genet 1993; 5: 274-278.
  • 4. Stern R. The diagnosis of cystic fibrosis. N Engl J Med 1997; 336: 487-491.
  • 5. Chillón M, Casals T, Mercier B, et al. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. N Engl J Med 1995; 332: 1475-1480.

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