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,...
Enregistré dans:
| Auteurs principaux: | , , , , , |
|---|---|
| Langue: | Spanish / Castilian |
| Publié: |
Sociedad Médica de Santiago
2011
|
| Sujets: | |
| Accès en ligne: | http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872011001200011 |
| Tags: |
Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!
|