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A novel HECW2 variant in an infant with congenital long QT syndrome
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 comorbidities. The...
Autores principales: | Imanishi, Rina, Nakau, Kouichi, Shimada, Sorachi, Oka, Hideharu, Takeguchi, Ryo, Tanaka, Ryosuke, Sugiyama, Tatsutoshi, Nii, Mitsumaro, Okamoto, Toshio, Nagaya, Ken, Makita, Yoshio, Yanagi, Kumiko, Kaname, Tadashi, Takahashi, Satoru |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10244414/ https://www.ncbi.nlm.nih.gov/pubmed/37280227 http://dx.doi.org/10.1038/s41439-023-00245-w |
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