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Updated: Jul 9, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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导致朱伯特综合征的RPGRIP1L基因的新突变:一个病例报告

Paola Andrea Duque-Cordoba1,2, Lorena Diaz-Ordoñez1,2, Juan David Gutierrez-Medina1,3

  • 1Centro de Investigaciones en Anomalías Congénitas y Enfermedades Raras (CIACER), Universidad Icesi, Cali, Colombia.

Medicine
|November 28, 2023
PubMed
概括

乔伯特综合征7型,一种罕见的遗传疾病,在一名哥伦比亚儿科患者身上被诊断出低血压和发育迟缓. 基因分析发现了新的RPGRIP1L基因变异,证实了哥伦比亚首例报告病例.

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