239-kb Microdeletion Spanning <i>KMT2E</i> in a Child with Developmental Delay: Further Delineation of the Phenotype.

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第一作者： Konstantina,Kosma

第一单位： Department of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Athens, Greece.

作者： Konstantina,Kosma ^[1] ; Konstantinos,Varvagiannis ^[1] ; Anastasios,Mitrakos ^[1] ; Maria,Tsipi ^[2] ; Joanne,Traeger-Synodinos ^[1] ; Maria,Tzetis ^[1]

作者单位： Department of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Athens, Greece. ^[1] University Research Institute of Maternal and Child Health & Precision Medicine, Athens, Greece. ^[2]

关键词 7q22.3 microdeletion Developmental delay KMT2E LHFPL3 O'Donnell-Luria-Rodan syndrome

DOI 10.1159/000516635

PMID 34602960

发布时间 2023-09-21

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