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Items: 7

1.

A novel missense mutation in the gene EDARADD associated with an unusual phenotype of hypohidrotic ectodermal dysplasia.

Wohlfart S, Söder S, Smahi A, Schneider H.

Am J Med Genet A. 2016 Jan;170A(1):249-53. doi: 10.1002/ajmg.a.37412. Epub 2015 Oct 5.

PMID:
26440664
2.

A case-control study of the association between tooth-development gene polymorphisms and non-syndromic hypodontia in the Chinese Han population.

Liu H, Zhang J, Song S, Zhao H, Han D, Feng H.

Eur J Oral Sci. 2012 Oct;120(5):378-85. doi: 10.1111/j.1600-0722.2012.00986.x. Epub 2012 Aug 18.

PMID:
22984994
3.

Isolated oligodontia associated with mutations in EDARADD, AXIN2, MSX1, and PAX9 genes.

Bergendal B, Klar J, Stecksén-Blicks C, Norderyd J, Dahl N.

Am J Med Genet A. 2011 Jul;155A(7):1616-22. doi: 10.1002/ajmg.a.34045. Epub 2011 May 27.

PMID:
21626677
4.

Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases.

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.

Hum Mutat. 2011 Jan;32(1):70-2. doi: 10.1002/humu.21384.

PMID:
20979233
5.

Mutations in EDARADD account for a small proportion of hypohidrotic ectodermal dysplasia cases.

Chassaing N, Cluzeau C, Bal E, Guigue P, Vincent MC, Viot G, Ginisty D, Munnich A, Smahi A, Calvas P.

Br J Dermatol. 2010 May;162(5):1044-8. doi: 10.1111/j.1365-2133.2010.09670.x. Epub 2010 Mar 5.

PMID:
20222921
6.

Identification of a novel death domain-containing adaptor molecule for ectodysplasin-A receptor that is mutated in crinkled mice.

Yan M, Zhang Z, Brady JR, Schilbach S, Fairbrother WJ, Dixit VM.

Curr Biol. 2002 Mar 5;12(5):409-13.

7.

Gene defect in ectodermal dysplasia implicates a death domain adapter in development.

Headon DJ, Emmal SA, Ferguson BM, Tucker AS, Justice MJ, Sharpe PT, Zonana J, Overbeek PA.

Nature. 2001 Dec 20-27;414(6866):913-6.

PMID:
11780064

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