Associated Papers
EDA mutation as a cause of hypohidrotic ectodermal dysplasia: a case report and review of the literature.
Huang SX et al.
Genetics and Molecular Research : Gmr, 2015
Novel missense mutation in the EDA1 gene identified in a family with hypohidrotic ectodermal dysplasia.
Pozo-Molina G et al.
International Journal of Dermatology, 2015
Novel EDA p.Ile260Ser mutation linked to non-syndromic hypodontia.
Yang Y et al.
Journal of Dental Research, 2013
23625373 (PubMed )
Supplement: ds_10.1177_0022034513487557.pdf
Mutations leading to X-linked hypohidrotic ectodermal dysplasia affect three major functional domains in the tumor necrosis factor family member ectodysplasin-A.
Schneider P et al.
The Journal of Biological Chemistry, 2001
Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia.
Vincent MC et al.
European Journal of Human Genetics : Ejhg, 2001
A novel point mutation of the EDA gene in a Japanese family with anhidrotic ectodermal dysplasia.
Yotsumoto S et al.
The Journal of Investigative Dermatology, 1998
A novel missense mutation (402C-->T) in exon 1 in the EDA gene in a family with X-linked hypohidrotic ectodermal dysplasia.
Hertz JM et al.
Clinical Genetics, 1998
Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: diagnostic implications.
Ferguson BM et al.
Journal of Medical Genetics, 1998
X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein.
Kere J et al.
Nature Genetics, 1996
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