A novel HECW2 variant in an infant with congenital long QT syndrome

A novel HECW2 variant in an infant with congenital long QT syndrome

Abstract Pathogenic variants of HECW2 have been reported in cases of neurodevelopmental disorder with hypotonia, seizures, and absent language (NDHSAL; OMIM #617268). A novel HECW2 variant (NM_001348768.2:c.4343 T > C,p.Leu1448Ser) was identified in an NDHSAL infant with severe cardiac comorbidit...

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Bibliographic Details
Main Authors: Rina Imanishi, Kouichi Nakau, Sorachi Shimada, Hideharu Oka, Ryo Takeguchi, Ryosuke Tanaka, Tatsutoshi Sugiyama, Mitsumaro Nii, Toshio Okamoto, Ken Nagaya, Yoshio Makita, Kumiko Yanagi, Tadashi Kaname, Satoru Takahashi
Format: Article
Language:English
Published: Nature Publishing Group 2023-06-01
Series:Human Genome Variation
Online Access:https://doi.org/10.1038/s41439-023-00245-w

Internet

https://doi.org/10.1038/s41439-023-00245-w

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