[儿童TCF4基因新突变引起的Pitt-Hopkins综合征]。

Zhonghua er ke za zhi = Chinese journal of pediatrics Pub Date : 2023-06-02 DOI:10.3760/cma.j.cn112140-20221218-01054

J H Liu, T Zhang, J F Tan, X F Zhu

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[Pitt-Hopkins syndrome caused by TCF4 gene novel mutation in a child].

患儿女，1岁5月龄，因“发现智力运动发育落后1年余”就诊。患儿表现为特异性面部特征与全面性发育迟缓，基因检测提示TCF4基因新发错义变异c.1739G>T（p.Arg580Leu），结合表型诊断为皮特-霍普金斯综合征。皮特-霍普金斯综合征是1种全球罕见的神经发育障碍疾病，该病尚无特效疗法，以个体化康复功能训练为主。.

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Zhonghua er ke za zhi = Chinese journal of pediatrics

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