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Updated: Sep 9, 2025

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レット症候群の独身双子の臨床的差異:症例報告と体系的レビュー

Silvia Boeri1,2, Maria Piai3, Silvia Russo4

  • 1Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy. silviaboeri@gaslini.org.

Orphanet journal of rare diseases
|September 2, 2025
PubMed
まとめ

一卵性双子のレット症候群 (RTT) の症例は,同じMECP2遺伝子変異にもかかわらず,重度の違いを示しています. X染色体不活性化パターンが表型の違いを説明しないので,他の遺伝的要因が作用していることを示唆している.

キーワード:
エピレプシーMECP2 について一卵性双生児レット症候群X染色体の不活性化

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