Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia

Lines, M. A., Goldenberg, P., Wong, A., Srivastava, S., Bayat, A., Hove, H., Karstensen, H. G., Anyane‐Yeboa, K., Liao, J., Jiang, N., May, A., Guzman, E., Morleo, M., D’Arrigo, S., Ciaccio, C., Pantaleoni, C., Castello, R., McKee, S., … Dyment, D. A. (2022). Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia. American Journal of Medical Genetics Part A, 188(6), 1667–1675. Portico. https://doi.org/10.1002/ajmg.a.62673
Authors:
Matthew A. Lines
Paula Goldenberg
Ashley Wong
Siddharth Srivastava
Allan Bayat
Hanne Hove
Helena Gásdal Karstensen
Kwame Anyane-Yeboa
Jun Liao
Nan Jiang
Alison May
Edwin Guzman
Manuela Morleo
Stefano D'Arrigo
Claudia Ciaccio
Chiara Pantaleoni
Raffaele Castello
Shane McKee
Jinfon Ong
Hana Zibdeh-Lough
Frederic Tran-Mau-Them
Anna Gerasimenko
Delphine Heron
Boris Keren
Henri Margot
Jean-Madeleine de Sainte Agathe
Lydie Burglen
Thomas Voets
Joris Vriens
A. Micheil Innes
David A. Dyment
Affiliated Authors:
Kwame Anyane-Yeboa
Jun Liao
Nan Jiang
Alison May
Edwin Guzman
Columbia Affiliation:
Subjects:
Epilepsy (MeSH)
Infant, Newborn, Diseases (MeSH)
Intellectual Disability (MeSH)
TRPM Cation Channels (MeSH)
Author Keywords:
genematcher
global developmental delay
intellectual disability
seizures
trpm3
elink
Publication Type:
Article
Unique ID:
10.1002/ajmg.a.62673
DOI:
10.1002/ajmg.a.62673
Journal:
American Journal of Medical Genetics, Part A
Publication Date:
Data Source:
Scopus
Source Link:
View Scopus Record
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Record Created: