Odonto-onycho-dermal dysplasia in a patient homozygous for a WNT10A nonsense mutation and mild manifestations of ectodermal dysplasia in carriers of the mutation
Author:
Publisher
Springer Science and Business Media LLC
Subject
Dermatology
Link
http://link.springer.com/content/pdf/10.1186/s12895-016-0040-7
Reference26 articles.
1. Online Mendelian Inheritance in Man. Odonto-onycho-dermal dysplasia (OODD) OMIM# 257980 [ http://www.omim.org/entry/257980 ]
2. Fadhil M, Ghabra TA, Deeb M, Der Kaloustian VM. Odontoonychodermal dysplasia: a previously apparently undescribed ectodermal dysplasia. Am J Med Genet. 1983;14:335–46.
3. Arnold WP, Merkx MA, Steijlen PM. Variant of odontoonychodermal dysplasia? Am J Med Genet. 1995;59:242–4.
4. Adaimy L, Chouery E, Megarbane H, Mroueh S, Delague V, Nicolas E, Belguith H, de Mazancourt P, Megarbane A. Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia. Am J Hum Genet. 2007;81:821–8.
5. Zirbel GM, Ruttum MS, Post AC, Esterly NB. Odonto-onycho-dermal dysplasia. Br J Dermatol. 1995;133:797–800.
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