Jervell and Lange-Nielsen syndrome with novel KCNQ1 and additional gene mutations.
Disease genetics
Genetic counselling
Journal
Human genome variation
ISSN: 2054-345X
Titre abrégé: Hum Genome Var
Pays: England
ID NLM: 101652445
Informations de publication
Date de publication:
2020
2020
Historique:
received:
08
12
2019
revised:
19
08
2020
accepted:
14
09
2020
entrez:
21
10
2020
pubmed:
22
10
2020
medline:
22
10
2020
Statut:
epublish
Résumé
We encountered a boy with Jervell and Lange-Nielsen syndrome (JLNS) with compound heterozygous
Identifiants
pubmed: 33082985
doi: 10.1038/s41439-020-00121-x
pii: 121
pmc: PMC7562699
doi:
Types de publication
Journal Article
Langues
eng
Pagination
34Informations de copyright
© The Author(s) 2020.
Déclaration de conflit d'intérêts
Conflict of interestThe authors declare that they have no conflict of interest.
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