Delineation of a Phenotype Caused by a KAT6B Missense Variant Not Resembling Say-Barber-Biesecker-Young-Simpson and Genitopatellar Syndromes
Molecular syndromology（2022）
关键词
Whole-exome sequencing,Lysine acetyltransferase 6B,Say-Barber-Biesecker-Young-Simpson syndrome,Genitopatellar syndrome,Genotype-phenotype correlation
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