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References

These sources were used to develop the Genetics Home Reference gene summary on the EDAR gene.

Chassaing N, Bourthoumieu S, Cossee M, Calvas P, Vincent MC. Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia. Hum Mutat. 2006 Mar;27(3):255-9. PubMed citation
Courtney JM, Blackburn J, Sharpe PT. The Ectodysplasin and NFkappaB signalling pathways in odontogenesis. Arch Oral Biol. 2005 Feb;50(2):159-63. Review. PubMed citation
Entrez Gene
Gene Review: Hypohidrotic Ectodermal Dysplasia
Mikkola ML, Thesleff I. Ectodysplasin signaling in development. Cytokine Growth Factor Rev. 2003 Jun-Aug;14(3-4):211-24. Review. PubMed citation
Monreal AW, Ferguson BM, Headon DJ, Street SL, Overbeek PA, Zonana J. Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia. Nat Genet. 1999 Aug;22(4):366-9. PubMed citation
Naeem M, Muhammad D, Ahmad W. Novel mutations in the EDAR gene in two Pakistani consanguineous families with autosomal recessive hypohidrotic ectodermal dysplasia. Br J Dermatol. 2005 Jul;153(1):46-50. PubMed citation
Wiśniewski SA, Kobielak A, Trzeciak WH, Kobielak K. Recent advances in understanding of the molecular basis of anhidrotic ectodermal dysplasia: discovery of a ligand, ectodysplasin A and its two receptors. J Appl Genet. 2002;43(1):97-107. Review. PubMed citation

Reviewed: August 2006

Published: May 13, 2013