Mutación en el gen EDA1, Ala349Thr en paciente con displasia ectodérmica hipohidrótica ligada a X / Mutation in the ED1, Ala349Thr in a patient with X-linked hypohidrotic ectodermal dysplasia
Rev. méd. Chile
;
139(12): 1601-1604, dic. 2011. ilus
Article
Dans Espagnol
| LILACS
| ID: lil-627596
ABSTRACT
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.
Texte intégral:
Disponible
Indice:
LILAS (Amériques)
Sujet Principal:
Mutation faux-sens
/
Dysplasie ectodermique anhidrotique de type 1
/
Ectodysplasines
Limites du sujet:
Enfant d'âge préscolaire
/
Humains
/
Mâle
langue:
Espagnol
Texte intégral:
Rev. méd. Chile
Thème du journal:
Médicament
Année:
2011
Type:
Article
Pays d'affiliation:
Mexique
/
États-Unis d'Amérique
Institution/Pays d'affiliation:
Centro Médico Noroeste IMSS/MX
/
Columbia University/US
/
Universidad Autónoma de Nuevo León/MX
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