En marzo, una publicación de American Journal of Medecine Genetics mostró que una mutación del gen PTDSS1 provocaba una forma extremadamente rara de Cutis Laxa: el síndrome de Lenz-Majewski (LMS) que contiene Cutis Laxa asociada con un retraso de crecimiento, un enanismo y un retraso intelectual. Se trata allí, según este estudio de 3 casos, […]
https://www.cutislaxa.org/wp-content/uploads/2017/07/gene-small.jpg169300Marie-Claudehttp://www.cutislaxa.org/wp-content/uploads/2017/12/NEW-LOGO-CLI-4.pngMarie-Claude2018-03-30 13:20:322018-09-20 13:21:54Una nueva forma de Cutis Laxa
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Una nueva forma de Cutis Laxa
/en Investigación, Investigación- Medicina - Genética, Mutations /por Marie-ClaudeEn marzo, una publicación de American Journal of Medecine Genetics mostró que una mutación del gen PTDSS1 provocaba una forma extremadamente rara de Cutis Laxa: el síndrome de Lenz-Majewski (LMS) que contiene Cutis Laxa asociada con un retraso de crecimiento, un enanismo y un retraso intelectual. Se trata allí, según este estudio de 3 casos, […]
12 Identificaciónes de Mutaciónes
/en Mutations /por sonjaHoy, son pues 12 mutaciones diferentes que han sido identificadas y provocan Cutis Laxa. Es por eso que la clasificación de Cutis Laxa pronto será revisada. Elastine (ELN) (2 mutationen) – ADCL Fibuline5 (FBLN5) – ARCL1A Fibuline4 (FBLN4) – ARCL1B LTBP4 – ARCL1C ATP6V0A2 – ARCL2A PYCR1 – ARCL2B ATP6V1E1 / ATP6V1A – ARCL2C ALDH18A1 […]