Associated Papers
Identification of six novel mutations in EDA from 20 hypohidrotic ectodermal dysplasia families.
Xing Q et al.
Oral Diseases, 2024
Ectodysplasin pathogenic variants affecting the furin-cleavage site and unusual clinical features define X-linked hypohidrotic ectodermal dysplasia in India.
Chaudhary AK et al.
American Journal of Medical Genetics. Part A, 2022
Safety and immunogenicity of Fc-EDA, a recombinant ectodysplasin A1 replacement protein, in human subjects.
Körber I et al.
British Journal of Clinical Pharmacology, 2020
Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements.
Wohlfart S et al.
Journal of Human Genetics, 2016
Early respiratory and ocular involvement in X-linked hypohidrotic ectodermal dysplasia.
Dietz J et al.
European Journal of Pediatrics, 2013
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