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Revista médica de Chile

versión impresa ISSN 0034-9887

Resumen

SALAS-ALANIS, Julio C et al. Mutation in the ED1, Ala349Thr in a patient with X-linked hypohidrotic ectodermal dysplasia. Rev. méd. Chile [online]. 2011, vol.139, n.12, pp. 1601-1604. ISSN 0034-9887.  http://dx.doi.org/10.4067/S0034-98872011001200011.

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 hyperpigmenta-tion, 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.

Palabras clave : Ectodermal dysplasia, hypohidrotic; Ectodysplasias; Mutation, missense.

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