Identification of a novel ANK1 mutation in hereditary spherocytosis co‐existing with BWS

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 assoc...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9000940/
https://www.ncbi.nlm.nih.gov/pubmed/35218326
http://dx.doi.org/10.1002/mgg3.1903

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