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Updated: Jul 20, 2025

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临床诊断为巴特综合征3型的患者的基因型变异性

Alejandro García-Castaño1,2, Sara Gómez-Conde1,2,3, Leire Gondra1,2,3,4

  • 1Biocruces Bizkaia Health Research Institute, Barakaldo, Spain.

Scientific reports
|August 3, 2023
PubMed
概括

由于遗传异质性,巴特特综合征 (BS) 的分子诊断具有挑战性. 一个下一代测序小组在44%的患者中确定了致病变体,揭示了超越经典BS的多种管病变,突出了基因小组的效率.

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