Kere J,Srivastava AK,Montonen O,et al.X-linked anhidrotic(hypohidrotic)ectodermal dysplasia is caused by mutation in a novel transmembrane protein[J].Nature Genet,1996,13:409-416.
[2]
Bayes M,Hartung AJ,Ezer S,et al.The anhidrotic ectodermal dysplasia gene(EDA)undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats[J].Hum Molec Genet,1998,7:1661-1669.
[3]
Vincent MC,Biancalana V,Ginisty D,et al.Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia[J].Europ J Hum Genet,2001,9:355-363.
[4]
Itin PH,Fistarol SK.Ectodermal dysplasias [J].Am J Med Genet,2004,131(1):45-51.
Gaide O,Schneider P.Permanent correction of an inherited ectodermal dysplasia with recombinant EDA [J].Nat Med,2003,9(5):614-618.
[7]
Kobielak K,Kobielak A,Roszkiewicz J,et al.Mutations in the EDA gene in three unrelated families reveal no apparent correlation between phenotype and genotype in the patients with an X-linked anhidrotic ectodermal dysplasia[J].Am J Med Genet,2001,100:191-197
