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

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

Abstract 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 anem...

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Bibliographic Details
Main Authors: Qinghua Zhang, Chuan Zhang, Yupei Wang, Shengjv Hao, Jingyun Shi, Xuan Feng, Lei Zheng, Xin Wang, Chen Xue, Bingbo Zhou, Furong Liu, Fangping Zhao, Xuetao Li, Liangyuan Deng, Jun Hou, Zhaoyan Meng
Format: Article
Language:English
Published: Wiley 2022-04-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
ANK1 mutation
Beckwith–Wiedemann syndrome
hereditary spherocytosis
KCNQ1OT1 methylation
MS‐MLPA
whole exome sequencing
Online Access:https://doi.org/10.1002/mgg3.1903

Internet

https://doi.org/10.1002/mgg3.1903

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