Identification of a novel ANK1 mutation in hereditary spherocytosis co‐existing with BWS
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DOI: 10.1002/mgg3.1903
Abstract: 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… read more here.
Keywords: ank1 mutation; mutation hereditary; spherocytosis; novel ank1 ... See more keywords