Recurrent FLNA p.Gly1554Arg Variant Associated With Familial Ebstein Anomaly and Joint Stiffness

Am J Med Genet A. 2024 Dec 20:e63973. doi: 10.1002/ajmg.a.63973. Online ahead of print.

Authors

Yukiko Kuroda¹, Koki Nagai¹, Yasuhiro Kawai¹, Takuya Wakamiya², Takuya Naruto³, Kenji Kurosawa¹

Affiliations

¹ Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
² Division of Cardiology, Kanagawa Children's Medical Center, Yokohama, Japan.
³ Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Japan.

PMID: 39704215
DOI: 10.1002/ajmg.a.63973

No abstract available

Keywords: FLNA; Ebstein anomaly; G1554R; joint stiffness; valvular dysplasia.

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