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Updated: Jun 3, 2025

Study of the Functions and Activities of Neuronal K-Cl Co-Transporter KCC2 Using Western Blotting
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肯尼-卡菲综合征2型 (KCS2):一个新的病例报告和患者随访优化

Kyriaki Hatziagapiou1, Amalia Sertedaki1, Vasiliki Dermentzoglou2

  • 1Division of Endocrinology, Diabetes and Metabolism, ENDO-ERN Center for Rare Pediatric Endocrine Disorders, First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, Aghia Sophia Children's Hospital, 11527 Athens, Greece.

Journal of clinical medicine
|January 11, 2025
PubMed
概括

肯尼-卡菲综合征2 (KCS2) 是一种罕见的遗传疾病,由于FAM111A基因变异,导致缺甲状腺症和矮身. 这个案例突出了KCS2的优势.

关键词:
这就是FAM111A.肯尼-卡菲综合征2型皮层的厚化 皮层的厚化空的塞拉空的塞拉形骨质发育不良/骨髓硬化症骨髓狭窄症 骨髓狭窄症我们的纳米体.一个副荷尔蒙激素.

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