Wilson disease (novel ATP7B variants) with concomitant FLNC-related cardiomyopathy

Wilson disease (novel ATP7B variants) with concomitant FLNC-related cardiomyopathy

Abstract We report a case of Wilson disease (WD) with dilated cardiomyopathy in which whole-genome sequencing (WGS) revealed the rare co-occurrence of two novel compound heterozygous ATP7B pathogenic variants (NM_001005918.3:c.2250del/p.N751Tfs*9 and c.3496C>T/p.L1166F) and a known FLNC pathogeni...

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Main Authors: Takeshi Imai, Satomi Mitsuhashi, Kenji Isahaya, Soichiro Shibata, Yosuke Kawai, Yosuke Omae, Katsushi Tokunaga, NCBN Controls WGS Consortium, Yoshihisa Yamano
Format: Article
Language:English
Published: Nature Publishing Group 2024-08-01
Series:Human Genome Variation
Online Access:https://doi.org/10.1038/s41439-024-00283-y
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https://doi.org/10.1038/s41439-024-00283-y

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