| 1 | ED12, ED3, EDA, EDAR, EDARADD, HEDAD, OODD, WNT10A
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| Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases.
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| Cluzeau C, Hadj-Rabia S, Jambou M, Mansour S, Guigue P, Masmoudi S, Bal E, Chassaing N, Vincent MC, Viot G, Clauss F, Manière MC, Toupenay S, Le Merrer M, Lyonnet S, Cormier-Daire V, Amiel J, Faivre L, de Prost Y, Munnich A, Bonnefont JP, Bodemer C, Smahi A.
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| Hum Mutat 32(1):70-2. 2011
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| 2 | ED1, ED3, EDA, EDAR
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| X-linked and autosomal recessive Hypohidrotic Ectodermal Dysplasia: genotypic-dental phenotypic findings.
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| Clauss F, Chassaing N, Smahi A, Vincent MC, Calvas P, Molla M, Lesot H, Alembik Y, Hadj-Rabia S, Bodemer C, Manière MC, Schmittbuhl M.
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| Clin Genet 78(3):257-66. Epub 2010 Feb 24.
2010
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| 3 | ED3, EDAR
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| A novel splice site mutation in the EDAR gene underlies autosomal recessive hypohidrotic ectodermal dysplasia in a Pakistani family.
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| Wasif N, Tariq M, Ali G, Hassan MJ, Ahmad W.
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| Pediatr Dermatol 27(1):106-8.
2010
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| 4 | ED3, EDAR
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| Identification of ectodysplasin-A receptor gene deletion at 2q12.2 and a potential autosomal MR locus.
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| Griggs BL, Ladd S, Decker A, DuPont BR, Asamoah A, Srivastava AK.
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| Eur J Hum Genet 17(1):30-6. Epub 2008 Oct 15.
2009
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| 5 | ED1, ED3, EDA, EDAR
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| Identification of mutations in the EDA and EDAR genes in Pakistani families with hypohidrotic ectodermal dysplasia.
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| Shimomura Y, Wajid M, Weiser J, Kraemer L, Ishii Y, Lombillo V, Bale SJ, Christiano AM.
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| Clin Genet 75(6):582-4. Epub 2009 May 5. No abstract available.
2009
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| 6 | ED1, ED3, EDA, EDAR, EDARADD
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| Molecular aspects of hypohidrotic ectodermal dysplasia.
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| Mikkola ML.
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| Am J Med Genet A 149A(9):2031-6. Review.PMID: 19681132 2009
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| 7 | ED3, EDAR
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| A replication study confirmed the EDAR gene to be a major contributor to population differentiation regarding head hair thickness in Asia.
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| Fujimoto A, Ohashi J, Nishida N, Miyagawa T, Morishita Y, Tsunoda T, Kimura R, Tokunaga K.
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| Hum Genet 124(2):179-85. Epub 2008 Aug 13.
2008
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| 8 | ED3, EDAR
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| Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia.
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| van der Hout AH, Oudesluijs GG, Venema A, Verheij JB, Mol BG, Rump P, Brunner HG, Vos YJ, van Essen AJ.
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| Eur J Hum Genet 16(6):673-9. Epub 2008 Jan 30. 2008
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| 9 | ED3, EDAR
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| Unusual presentation of a severe autosomal recessive anhydrotic ectodermal dysplasia with a novel mutation in the EDAR gene.
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| Mégarbané H, Cluzeau C, Bodemer C, Fraïtag S, Chababi-Atallah M, Mégarbané A, Smahi A.
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| Am J Med Genet A 146A(20):2657-62. 2008
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| 10 | ED1, ED3, EDA, EDAR
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| Molecular genetic analysis of patients from India with hypohidrotic ectodermal dysplasia reveals novel mutations in the EDA and EDAR genes.
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| RamaDevi AR, Reddy EC, Ranjan S, Bashyam MD.
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| Br J Dermatol 158(1):163-7. Epub 2007 Oct 26. No abstract available. PMID: 17970812 2008
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| 11 | EDAR, ED3
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| Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia.
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| Chassaing N, Bourthoumieu S, Cossee M, Calvas P, Vincent MC.
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| Hum Mutat 27(3):255-9. 2006
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| 12 | EDAR, ED3
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| Novel mutations in the EDAR gene in two Pakistani consanguineous families with autosomal recessive hypohidrotic ectodermal dysplasia.
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| Naeem M, Muhammad D, Ahmad W.
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| Br J Dermatol 153(1):46-50. 2005
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| 13 | EDAR, ED3
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| A rare case of hypohidrotic ectodermal dysplasia caused by compound heterozygous mutations in the EDAR gene.
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| Shimomura Y, Sato N, Miyashita A, Hashimoto T, Ito M, Kuwano R.
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| J Invest Dermatol 123(4):649-55. 2004
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| 14 | ED3
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| Both recessive and dominant forms of Anhidrotic/Hypohidrotic ectodermal dysplasia map to chromosome 2q11-q13.
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| Baala L, et al.
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| Am J Hum Genet 64(2):651-3. No abstract available 1999
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| 15 | ED3, EDAR
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| Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia.
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| Monreal AW, et al.
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| Nat Genet 22(4):366-9. 1999
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| 16 | ED3, EDAR
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| Involvement of a novel Tnf receptor homologue in hair follicle induction.
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| Headon DJ, et al.
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| Nat Genet 22(4):370-4. 1999
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| 17 | ED3
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| A gene for autosomal dominant hypohidrotic ectodermal dysplasia (EDA3) maps to chromosome 2q11-q13.
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| Ho L, et al.
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| Am J Hum Genet 62 : 1102-1106. 1998
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