Mutación en el gen EDA1, Ala349Thr en paciente con displasia ectodérmica hipohidrótica ligada a X
Salas Alanís, Julio César y Cepeda Valdés, Rodrigo y González Santos, Adriana y Amaya Guerra, Mario y Kurban, Mazen y Christiano, Angela M (2011) Mutación en el gen EDA1, Ala349Thr en paciente con displasia ectodérmica hipohidrótica ligada a X. Revista médica de Chile, 139 (12). pp. 1601-1604. ISSN 0034-9887
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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 fi rst Mexican 2-year-old boy with an Ala349Thr missense mutation from Tamaulipas, México. (Rev Med Chile 2011; 139: 1601-1604).
Tipo de elemento: | Article | |||||||||||||||||||||
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Palabras claves no controlados: | Ectodermal dysplasia, hypohidrotic; Ectodysplasias; Mutation, missense. | |||||||||||||||||||||
Usuario depositante: | Lic. Josimar Pulido | |||||||||||||||||||||
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Fecha del depósito: | 10 Mayo 2019 17:30 | |||||||||||||||||||||
Última modificación: | 25 Jun 2019 09:47 | |||||||||||||||||||||
URI: | http://eprints.uanl.mx/id/eprint/15051 |
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