Mutación en el gen EDA1, Ala349Thr en paciente con displasia ectodérmica hipohidrótica ligada a X

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

Resultado de la investigaciónrevisión exhaustiva

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 originalSpanish
Páginas (desde-hasta)1601-1604
Número de páginas4
PublicaciónRevista Medica de Chile
Volumen139
N.º12
DOI
EstadoPublished - 1 dic 2011
Publicado de forma externa

All Science Journal Classification (ASJC) codes

  • Medicina (todo)

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