Clinical and genetic characteristics associated with dual-positive gene variations

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Clinical and genetic characteristics associated with dual-positive gene variations

ObjectiveTo analyze the clinical and genetic characteristics associated with dual-positive gene variations.MethodsA retrospective analysis was conducted on two children diagnosed with dual-positive gene variations.ResultsPatient 1, a 7-year-old girl, presented with a low hairline, microcephaly, high...

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Bibliographic Details
Main Authors:	Li Wang, Jinghe Shi, Xiaojing Yin, Pingyun Qiao, Fuwei Li, Weixing Feng
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2025-07-01
Series:	Frontiers in Neuroscience
Subjects:	SMC3 gene MECP2 gene PMP22 gene clinical characteristics dual-positive gene variations
Online Access:	https://www.frontiersin.org/articles/10.3389/fnins.2025.1516589/full
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