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首页> 外文期刊>Clinical Genetics: An International Journal of Genetics in Medicine >Old treatments for new genetic conditions: Sirolimus therapy in a child affected by mosaic overgrowth with fibroadipose hyperplasia
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Old treatments for new genetic conditions: Sirolimus therapy in a child affected by mosaic overgrowth with fibroadipose hyperplasia

机译:新的遗传条件下的旧治疗:由马赛克过度生长影响的儿童西罗莫司治疗与纤维型脂素增生

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摘要

PIK3CA-related overgrowth spectrum (PROS) are overgrowth diseases involving mesenchymal tissues caused by postzygotic variants in the PIK3CA gene. Fibro-Adipose hyperplasia or Overgrowth (FAO) belongs to PROS. We reported the beneficial effect of oral low-dose sirolimus therapy in a child affected by progressive FAO in term of stabilization of the disease, good tolerability, and easy management.
机译:Pik3CA相关的过度生长谱(专利)是涉及由PIK3CA基因的Pik3CA基因的Pertzycotic变体引起的间充质组织的过度生长疾病。 纤维 - 脂肪增生或过度生长(粮农组织)属于专业人士。 我们报告了口服低剂量西罗莫司治疗在受疾病的稳定,良好耐受性和易于管理的粮农组织影响的儿童中的有益作用。

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    Fdn Policlin Univ A Gemelli IRCCS Ctr Rare Dis &

    Birth Defects Dept Woman &

    Child Hlth Rome;

    Fdn Policlin Univ A Gemelli IRCCS Ctr Rare Dis &

    Birth Defects Dept Woman &

    Child Hlth Rome;

    Univ Bari Aldo Moro Dept Biomed Sci &

    Human Oncol DIMO Div Med Genet Bari Italy;

    Fdn Policlin Univ A Gemelli IRCCS Ctr Rare Dis &

    Birth Defects Dept Woman &

    Child Hlth Rome;

    Fdn Policlin Univ A Gemelli IRCCS Ctr Rare Dis &

    Birth Defects Dept Woman &

    Child Hlth Rome;

    Univ Bari Aldo Moro Dept Biomed Sci &

    Human Oncol DIMO Div Med Genet Bari Italy;

    Fdn Policlin Univ A Gemelli IRCCS Radiol Diagnost &

    Interventist Gen Area Diagnost Immagini;

    Fdn Policlin Univ A Gemelli IRCCS Radiol Diagnost &

    Interventist Gen Area Diagnost Immagini;

    Fdn Policlin Univ A Gemelli IRCCS UOC Genet Med Rome Italy;

    Fdn Policlin Univ A Gemelli IRCCS Ctr Rare Dis &

    Birth Defects Dept Woman &

    Child Hlth Rome;

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  • 原文格式 PDF
  • 正文语种 eng
  • 中图分类 医学遗传学;
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