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June 27, 2024HeliyonOpen Access

Novel heterozygous variant of ADPRHL2 causes pathogenic variation in CONDSIAS

Shuang Yan Jie Ren Hongting Su Jiehui Ma Weijie He Xiaofang Cai Dan Sun

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Abstract

Adprhl2 (OMIM: 610624) mutation associated stress-induced childhood-onset neurodegeneration with variable ataxia and seizures (CONDSIAS, OMIM: 618170) is a sporadic neurodegenerative disease with poor prognosis.

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Yan et al. (2024) studied this question.

synapsesocial.com/papers/68e6311cb6db6435875c3212 https://doi.org/10.1016/j.heliyon.2024.e32945

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