EDAR-induced hypohidrotic ectodermal dysplasia: a clinical study on signs and symptoms in individuals with a heterozygous c.1072C > T mutation

BACKGROUND: Mutations in the EDAR-gene cause hypohidrotic ectodermal dysplasia, however, the oral phenotype has been described in a limited number of cases. The aim of the present study was to clinically describe individuals with the c.1072C > T mutation (p. Arg358X) in the EDAR gene with respect...

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Detalles Bibliográficos
Autores principales: Falk Kieri, Catarina, Bergendal, Birgitta, Lind, Lisbet K, Schmitt-Egenolf, Marcus, Stecksén-Blicks, Christina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4036832/
https://www.ncbi.nlm.nih.gov/pubmed/24884697
http://dx.doi.org/10.1186/1471-2350-15-57

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