ChillonMCasalsTMercierB. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. N Engl J Med. 1995;332:1475-1480.
2.
PaganiFStuaniCTzetisM. New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12. Hum Mol Genet. 2003;12:1111-1120.
3.
De BraekeleerMFerecC. Mutations in the cystic fibrosis gene in men with congenital bilateral absence of the vas deferens. Mol Hum Reprod. 1996;2:669-677.
4.
GromanJDMeyerMEWilmottRWZeitlinPLCuttingGR. Variant cystic fibrosis phenotypes in the absence of CFTR mutations. N Engl J Med. 2002;347:401-407.
5.
FarrellPMRosensteinBJWhiteTB. Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report. J Pediatr. 2008;153:S4-S14.
6.
BaumerJH. Evidence based guidelines for the performance of the sweat test for the investigation of cystic fibrosis in the UK. Arch Dis Child. 2003;88:1126-1127.
7.
WarwickWJHansenLGBrownIVLaineWCHansenKL. Sweat chloride: quantitative patch for collection and measurement. Clin Lab Sci. 2001;14:155-159.
8.
LeGrysVA. Sweat testing for the diagnosis of cystic fibrosis: practical considerations. J Pediatr. 1996;129:892-897.
9.
Clinical and Laboratory Standards Institute. Sweat Testing: Sample Collection and Quantitative Chloride Analysis; Approved Guideline. 3rd ed.Wayne, PA: Clinical and Laboratory Standards Institute; 2009:49.
10.
WrightJTGrangeDKRichterMK. Hypohidrotic ectodermal dysplasia. In: PagonRAAdamMPBirdTDDolanCRFongCTStephensK, eds. GeneReviews. Seattle, WA: University of Washington; 1993.
11.
LexnerMOBardowAJunckerI. X-linked hypohidrotic ectodermal dysplasia. Genetic and dental findings in 67 Danish patients from 19 families. Clin Genet. 2008;74:252-259.