MIRAGE syndrome in a 10-year-old girl with a novel Lys1024Glu missense variant in SAMD9.

Tayfun Cinleti, Ali Gülen, Beria Sönmez,Semra Gürsoy,Özge Kangalli Boyacioğlu,Suna Asilsoy,Ayfer Ulgenalp,Özlem Giray Bozkaya,Ahmet Okay Çağlayan

Clinical dysmorphology（2023）

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摘要

Cinleti, Tayfuna; Gülen, Alib; Sönmez, Beriaa; Gürsoy, Semraa; Boyacioğlu, Özge Kangallic; Asilsoy, Sunac; Ulgenalp, Ayferb; Bozkaya, Özlem Giraya; Çağlayan, Ahmet Okayb,d Author Information

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关键词

novel lys1024glu missense variant,syndrome,year-old

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