Recientemente se han descubierto 4 mutaciones genéticas nuevas: LOX: Este gen de la familia de la 5-lisil oxidasa está implicado en el inicio de la reticulación de la elastina y el colágeno. La mutación induce síntomas cardiovasculares, respiratorios y óseos, en particular fracturas espontáneas. Por ello, inicialmente se consideró que podía tratarse de una forma […]
Aunque todavía no puedo decir nada más, porque aún no está todo publicado, estoy muy contenta y muy orgullosa de los investigadores que trabajan en Cutis Laxa: Se acaban de descubrir 5 NUEVAS MUTACIONES. Para todos pacientes cuyo tipo exacto de enfermedad aún no se ha podido identificar, esta es una oportunidad extraordinaria. Puedes volver […]
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