Novel variant in the KAT6B gene associated with Say Barber Biesecker Young Simpson.

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第一作者： Stefania A,Miller

第一单位： National Center of Medical Genetics, National Administration of Laboratories and Institutes of Health, Ministry of Health, Ciudad Autónomade Buenos Aires, Argentina.

作者： Stefania A,Miller ^[1] ; Andrea P,Solari ; Guillermo,Alberto ; Ana C,Benitez Medina ; Brenda M,García Ayré ; Daniel,Parisini ; Aldana,Claps ; Melisa,Taboas

作者单位： National Center of Medical Genetics, National Administration of Laboratories and Institutes of Health, Ministry of Health, Ciudad Autónomade Buenos Aires, Argentina. ^[1]

主题词人类(Humans);组蛋白酰基转移酶(Histone Acetyltransferases)

DOI 10.1097/MCD.0000000000000469

PMID 37646730

发布时间 2023-09-11

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