Genomic Amplification of the Human Plakophilin 1 Gene and Detection of a New Mutation in Ectodermal Dysplasia/Skin Fragility Syndrome [PDF]
, 2000 Neil V. Whittock +6 more
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The Ectodermal Dysplasia Receptor Activates the Nuclear Factor-κB, JNK, and Cell Death Pathways and Binds to Ectodysplasin A [PDF]
, 2001 Arvind Kumar +4 more
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Mutations within a furin consensus sequence block proteolytic release of ectodysplasin-A and cause X-linked hypohidrotic ectodermal dysplasia [PDF]
, 2001 Yanwen Chen +8 more
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Rare Pediatric Genetic Case Report of X-linked Hypohidrotic Ectodermal Dysplasia Type 1. [PDF]
Cureus, 2023 Zaki H.
europepmc +1 more source
The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia [PDF]
, 2001 Kati Pääkkönen +6 more
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A case of anodontia with ectodermal dysplasia on the siblings
, 1980 Kazuya Motomura +4 more
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Craniofacial tissues including tooth buds in fetal hypohidrotic ectodermal dysplasia [PDF]
, 2001 H Nordgarden +4 more
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Hidrotic ectodermal dysplasia in a Chinese pedigree: A case report. [PDF]
World J Clin Cases, 2023 Liao MY +5 more
europepmc +1 more source
Partial Deletion of the Bovine ED1 Gene Causes Anhidrotic Ectodermal Dysplasia in Cattle [PDF]
, 2001 Cord Drögemüller, O. Distl, Tosso Leeb
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