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Coffin-Lowry syndrome in a girl with 46,XX,t(X;11)(p22;p15)dn: Identification of RPS6KA3 disruption by whole genome sequencing

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Description scientific article published on 06 April 2020
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author: Tsutomu Ogata  Masayo Kagami  Maki Fukami  Fumiko Kato  Keiko Matsubara  Kaori Yamoto  Yasuko Fujisawa 

Publication date April 6, 2020
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