A novel mutation which causes a frameshift in the PHOX2B gene causes Haddad syndrome.
作者信息
Guzoglu Nilufer, Aslan Mustafa K, Gunay Yasemin D, Atasoy Pinar, Ceylaner Serdar, Aliefendioglu Didem
机构信息
Department of Pediatrics, Faculty of Medicine, Eastern Mediterranean University, Famagusta, North Cyprus via Mersin 10.
Department of Pediatric Surgery, Medical Park Hospital, Ankara.
出版信息
Clin Dysmorphol. 2020 Jul;29(3):152-154. doi: 10.1097/MCD.0000000000000317.
PMID:32073407
Abstract
摘要
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