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Expanding the Phenotype Associated to KMT2A Variants: Overlapping Clinical Signs Between Wiedemann–Steiner and Rubinstein–Taybi Syndromes

Elisabetta Di Fede,Valentina Massa,Bartolomeo Augello,Gabriella Squeo,Emanuela Scarano,Anna Maria Perri,Rita Fischetto,Francesco Andrea Causio,Giuseppe Zampino,Maria Piccione, Elena Curridori,Tommaso Mazza,Stefano Castellana,Lidia Larizza,Filippo Ghelma,Elisa Adele Colombo, Maria Chiara Gandini,Marco Castori,Giuseppe Merla,Donatella Milani,Cristina Gervasini

European Journal of Human Genetics（2020）

引用 20|浏览90
关键词
Epigenetics,Mutation,Biomedicine,general,Human Genetics,Bioinformatics,Gene Expression,Cytogenetics
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