Mutation in the ED1, Ala349Thr in a patient with X-linked hypohidrotic ectodermal dysplasia

Julio C. Salas-Alanis, Rodrigo Cepeda-Valdés, Adriana González-Santos, Mario Amaya-Guerra, Mazen Kurban, Angela M. Christiano

Resultado de la investigación

1 Cita (Scopus)

Resumen

Hypohidrotic ectodermal dysplasia (HED) is a very rare disease characterized by the absence of eccrine glands, dry skin, scanty hair, and dental abnormalities. It is caused by mutations within the ED1 gene, which encodes a protein, ectodysplasin-A (EDA). Clinical characteristic are frontal bossing, saddle nose, pointed chin, a prominent supraorbital ridge with periorbital hyperpigmentation, and anodontia. Those affected show great intolerance to heat. We report the first Mexican 2-year-old boy with an Ala349Thr missense mutation from Tamaulipas, México.
Idioma originalEnglish
Páginas (desde-hasta)1601-1604
Número de páginas4
PublicaciónRevista Medica de Chile
DOI
EstadoPublished - 1 dic 2011
Publicado de forma externa

All Science Journal Classification (ASJC) codes

  • Medicine(all)

Huella Profundice en los temas de investigación de 'Mutation in the ED1, Ala349Thr in a patient with X-linked hypohidrotic ectodermal dysplasia'. En conjunto forman una huella única.

  • Citar esto

    Salas-Alanis, J. C., Cepeda-Valdés, R., González-Santos, A., Amaya-Guerra, M., Kurban, M., & Christiano, A. M. (2011). Mutation in the ED1, Ala349Thr in a patient with X-linked hypohidrotic ectodermal dysplasia. Revista Medica de Chile, 1601-1604. https://doi.org/10.4067/S0034-98872011001200011