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病例报告:在一名患有ZTTK综合征的哥伦比亚患者中发现了一种新的SON突变

Diana Marcela Vasquez-Forero1,2, Barbara Masotto3, Rosario Ferrer-Avargues3

  • 1Facultad de ciencia de la salud, Universidad Icesi, Cali, Colombia.

Frontiers in genetics
|July 21, 2023
PubMed
概括

朱-托基塔-塔肯努奇-金综合征是一种罕见的遗传疾病,由SON基因突变引起. 这项研究详细介绍了第一个哥伦比亚患者的新奇突变,扩大了对这种疾病的了解.

关键词:
哥伦比亚哥伦比亚哥伦比亚哥伦比亚哥伦比亚一个儿子,一个儿子.这就是ZTTK综合征.朱·东基塔·塔肯诺奇·金综合征罕见病是一种罕见的疾病.

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