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...

Descripción completa

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

Internet

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

Ejemplares similares