Article
Identification of a novel ANK1 mutation in hereditary spherocytosis co-existing with BWS.
Molecular genetics & genomic medicine - 1 Apr 2022
Zhang Qinghua, Zhang Chuan, Wang Yupei, Hao Shengjv, Shi Jingyun, Feng Xuan, Zheng Lei, Wang Xin, Xue Chen, Zhou Bingbo, Liu Furong, Zhao Fangping, Li Xuetao, Deng Liangyuan, Hou Jun, Meng Zhaoyan
Abstract excerpt
BACKGROUND: Beckwith-Wiedemann syndrome (BWS) is an inherited disorder affecting 1 in 10,500 to 13,700 newborns worldwide. The disease is caused in a vast majority of patients by a molecular defect in the imprinted chromosome 11p15.5. Hereditary spherocytosis (HS) is a form of hemolytic anemia associated with a variety of mutations leading to congenital red blood cell (RBC) membrane defects. The prevalence of HS...
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