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 |
| _version_ | 1824414239019761664 |
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| author | Salas Alanís, Julio César Cepeda Valdés, Rodrigo González Santos, Adriana Amaya Guerra, Mario Kurban, Mazen Christiano, Angela M |
| author_facet | Salas Alanís, Julio César Cepeda Valdés, Rodrigo González Santos, Adriana Amaya Guerra, Mario Kurban, Mazen Christiano, Angela M |
| author_sort | Salas Alanís, Julio César |
| collection | Repositorio Institucional |
| description | 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). |
| format | Article |
| id | eprints-15051 |
| institution | UANL |
| language | Spanish / Castilian |
| publishDate | 2011 |
| record_format | eprints |
| spelling | eprints-150512019-06-25T09:47:14Z http://eprints.uanl.mx/15051/ Mutación en el gen EDA1, Ala349Thr en paciente con displasia ectodérmica hipohidrótica ligada a X Salas Alanís, Julio César Cepeda Valdés, Rodrigo González Santos, Adriana Amaya Guerra, Mario Kurban, Mazen Christiano, Angela M 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). 2011 Article PeerReviewed text es cc_by_nc_nd http://eprints.uanl.mx/15051/1/668.pdf http://eprints.uanl.mx/15051/1.haspreviewThumbnailVersion/668.pdf 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 http://doi.org/10.4067/S0034-98872011001200011 doi:10.4067/S0034-98872011001200011 |
| spellingShingle | Salas Alanís, Julio César Cepeda Valdés, Rodrigo González Santos, Adriana Amaya Guerra, Mario Kurban, Mazen Christiano, Angela M Mutación en el gen EDA1, Ala349Thr en paciente con displasia ectodérmica hipohidrótica ligada a X |
| thumbnail | https://rediab.uanl.mx/themes/sandal5/images/online.png |
| title | Mutación en el gen EDA1, Ala349Thr en paciente con displasia ectodérmica hipohidrótica ligada a X |
| title_full | Mutación en el gen EDA1, Ala349Thr en paciente con displasia ectodérmica hipohidrótica ligada a X |
| title_fullStr | Mutación en el gen EDA1, Ala349Thr en paciente con displasia ectodérmica hipohidrótica ligada a X |
| title_full_unstemmed | Mutación en el gen EDA1, Ala349Thr en paciente con displasia ectodérmica hipohidrótica ligada a X |
| title_short | Mutación en el gen EDA1, Ala349Thr en paciente con displasia ectodérmica hipohidrótica ligada a X |
| title_sort | mutacion en el gen eda1 ala349thr en paciente con displasia ectodermica hipohidrotica ligada a x |
| url | http://eprints.uanl.mx/15051/1/668.pdf |
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