Mutación en el gen EDA1, Ala349Thr en paciente con displasia ectodérmica hipohidrótica ligada a X
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,...
| Autores principales: | , , , , , |
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| Formato: | Artículo |
| Lenguaje: | Spanish / Castilian |
| Publicado: |
2011
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| Acceso en línea: | http://eprints.uanl.mx/15051/1/668.pdf |