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EB de Unión - Debra Costa Rica

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Buscar


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EB de Unión o Juntural

Esta variedad de la EB se hereda en forma recesiva (1% de los casos). La EB de Unión o Juntural es producida por una mutación de la proteína Laminina 5 que une las membranas y puede afectar las mucusas vasculares,cavidad oral, vía urinaria, esófago y faringe.

La EB de Unión o Juntural puede ser muy leve, causando pocas incapacidades y pocos problemas a largo plazo, sin embargo, existen otras formas de EB de Unión severas que en la mayoría de los casos finalizan con la muerte del niño en las primeras semanas de vida.

 

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