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2. A novel missense mutation (402C-->T) in exon 1 in the EDA gene in a family with X-linked hypohidrotic ectodermal dysplasia. Hertz JM, Nørgaard Hansen K, Juncker I, Kjeldsen M, Gregersen N. Clin Genet; 1998 Mar; 53(3):205-9. PubMed ID: 9630076 [Abstract] [Full Text] [Related]
12. A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO). Zonana J, Elder ME, Schneider LC, Orlow SJ, Moss C, Golabi M, Shapira SK, Farndon PA, Wara DW, Emmal SA, Ferguson BM. Am J Hum Genet; 2000 Dec; 67(6):1555-62. PubMed ID: 11047757 [Abstract] [Full Text] [Related]
13. Hypohidrotic ectodermal dysplasia: argument against an autosomal recessive form clinically indistinguishable from X-linked hypohidrotic ectodermal dysplasia (Christ-Siemens-Touraine syndrome). Sybert VP. Pediatr Dermatol; 1989 Jun; 6(2):76-81. PubMed ID: 2748478 [Abstract] [Full Text] [Related]
14. A Splice Defect in the EDA Gene in Dogs with an X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) Phenotype. Waluk DP, Zur G, Kaufmann R, Welle MM, Jagannathan V, Drögemüller C, Müller EJ, Leeb T, Galichet A. G3 (Bethesda); 2016 Sep 08; 6(9):2949-54. PubMed ID: 27449516 [Abstract] [Full Text] [Related]