Jervell and Lange-Nielsen syndrome with novel KCNQ1 and additional gene mutations

We encountered a boy with Jervell and Lange-Nielsen syndrome (JLNS) with compound heterozygous KCNQ1 mutations, maternal Trp248Phe and a novel paternal mutation, Leu347Arg. His father showed long QT (LQT) and arrhythmia. His mother was asymptomatic with no ECG abnormalities. The proband and his fath...

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Dades bibliogràfiques
Publicat a:Hum Genome Var
Autors principals: Matsuda, Shinichi, Ohnuki, Yuko, Okami, Mayuri, Ochiai, Eriko, Yamada, Shiro, Takahashi, Kazumi, Osawa, Motoki, Okami, Kenji, Iida, Masahiro, Mochizuki, Hiroyuki
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group UK 2020
Matèries:
Data Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7562699/
https://ncbi.nlm.nih.gov/pubmed/33082985
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-020-00121-x
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