Odonto-onycho-dermal dysplasia in a patient homozygous for a WNT10A nonsense mutation and mild manifestations of ectodermal dysplasia in carriers of the mutation

BACKGROUND: Odonto-onycho-dermal dysplasia (OODD) is a rare form of ectodermal dysplasia characterized by severe oligodontia, onychodysplasia, palmoplantar hyperkeratosis, dry skin, hypotrichosis, and hyperhidrosis of the palms and soles. The ectodermal dysplasias resulting from biallelic mutations...

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Detalles Bibliográficos
Autores principales: Krøigård, Anne Bruun, Clemmensen, Ole, Gjørup, Hans, Hertz, Jens Michael, Bygum, Anette
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785680/
https://www.ncbi.nlm.nih.gov/pubmed/26964878
http://dx.doi.org/10.1186/s12895-016-0040-7

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