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Updated: Sep 10, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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由于卡尼综合症导致的库辛综合症

Akhila Panduranga Bhandarkar1, Laxminarayana Samaga2, Shrikrishna Acharya3

  • 1Endocrinology and Metabolism, K S Hegde Medical Academy, Mangaluru, Karnataka, India drakhila.bhandarkar@gmail.com.

BMJ case reports
|August 21, 2025
PubMed
概括

卡尼综合症 (CNC) 是一种罕见的遗传性疾病,在两名患有库辛综合症的兄弟姐妹身上被诊断出. 基因检测发现了一种新的PRKAR1A突变, 证实了诊断和指导治疗.

关键词:
内分泌系统内分泌学

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