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Mosaicism of Common Pathogenic MECP2 Variants Identified in Two Males with a Clinical Diagnosis of Rett Syndrome

Jessica A. Cooley Coleman,Timothy Fee,Renee Bend,Raymond Louie,Fran Annese,Jennifer Stallworth,Jessica Worthington,Caroline Black Buchanan,David B. Everman,Steven Skinner,Michael J. Friez,Julie R. Jones,Catherine J. Spellicy

American Journal of Medical Genetics Part A（2022）

引用 4|浏览29
关键词
digital PCR,male,MECP2,mosaicism,NGS,Rett syndrome
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