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A novel pathogenic frameshift variant of KAT6B identified by clinical exome sequencing in a newborn with the Say-Barber-Biesecker-Young-Simpson syndrome.
Clinical Dysmorphology ( IF 0.4 ) Pub Date : 2019-03-29 , DOI: 10.1097/mcd.0000000000000270
Rodrigo Mendez 1 , Marisol Delea 2 , Liliana Dain 2 , Monica Rittler 3
Affiliation  



中文翻译:

通过临床外显子组测序在患有Say-Barber-Biesecker-Young-Simpson综合征的新生儿中鉴定出一种新型的KAT6B致病性移码变体。

更新日期:2019-11-01
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