Variants in KMT2A in Three Individuals with Previous Suspicion of 22q11.2 Deletion Syndrome

Henrique Garcia Silveira,Carlos Eduardo Steiner, Giovana Toccoli, Luise Longo Angeloni, Julia Londero Heleno,Samira Spineli-Silva, Ana Mondadori dos Santos,Tarsis Paiva Vieira,Maria Isabel Melaragno,Vera Lucia Gil-da-Silva-Lopes

GENES（2024）

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关键词

22q11.2 deletion syndrome,Wiedemann-Steiner syndrome,KMT2A,phenotype,deep phenotyping,differential diagnosis,whole-exome sequencing

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