症在Turnpenny-Fry综合征:一个案例报告
Rahul Khanna1, Anudeep Surendranath2, Saurabh Singhal3
1Neurology, Neurology and Sleep Clinic, West Burlington, USA.
Cureus
|June 12, 2025
概括
由于PCGF2基因突变引起的罕见遗传疾病,Turnpenny-Fry综合征 (TPFS) 越来越多地与有关. 需要进一步的研究,以了解其全方位的发育异常.
科学领域:
- 遗传学 是一个遗传学.
- 神经学 神经学
- 罕见疾病 罕见疾病
背景情况:
- 特恩佩尼-弗莱综合征 (TPFS) 是一种罕见的遗传疾病.
- 它的特征是位于染色体17q12上的PCGF2基因的异构基因突变.
- 全球有15个病例被记录在案.
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