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A novel missense variant in CHD7, a rare cause of CHARGE syndrome.
Clinical Dysmorphology ( IF 0.7 ) Pub Date : 2020-07-01 , DOI: 10.1097/mcd.0000000000000315
Peter Joslyn 1 , Hannah Meddaugh 2 , Jairo Torres 3 , Jessica Patrick-Esteve 1 , Staci Olister 1 , Christy Mumphrey 1 , Regina Zambrano 4
Affiliation  



中文翻译:

CHD7中的新型错义变异体,是CHARGE综合征的罕见病因。

更新日期:2020-01-09
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