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A novel mutation which causes a frameshift in the PHOX2B gene causes Haddad syndrome.
Clinical Dysmorphology ( IF 0.7 ) Pub Date : 2020-07-01 , DOI: 10.1097/mcd.0000000000000317
Nilufer Guzoglu 1 , Mustafa K Aslan 2 , Yasemin D Gunay 3 , Pinar Atasoy 4 , Serdar Ceylaner 5 , Didem Aliefendioglu 6
Affiliation  



中文翻译:

导致PHOX2B基因发生移码的新突变会导致Haddad综合征。

更新日期:2020-02-17
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