ARF1-related disorder: phenotypic and molecular spectrum

de Sainte Agathe, J.-M., Pode-Shakked, B., Naudion, S., Michaud, V., Arveiler, B., Fergelot, P., Delmas, J., Keren, B., Poirsier, C., Alkuraya, F. S., Tabarki, B., Bend, E., Davis, K., Bebin, M., Thompson, M. L., Bryant, E. M., Wagner, M., Hannibal, I., Lenberg, J., … Trimouille, A. (2023). ARF1-related disorder: phenotypic and molecular spectrum. Journal of Medical Genetics, 60(10), 999–1005. https://doi.org/10.1136/jmg-2022-108803
Authors:
Jean-Madeleine de Sainte Agathe
Ben Pode-Shakked
Sophie Naudion
Vincent Michaud
Benoit Arveiler
Patricia Fergelot
Jean Delmas
Boris Keren
Céline Poirsier
Fowzan S Alkuraya
Brahim Tabarki
Eric Bend
Kellie Davis
Martina Bebin
Michelle L Thompson
Emily M Bryant
Matias Wagner
Iris Hannibal
Jerica Lenberg
Martin Krenn
Kristen M Wigby
Jennifer R Friedman
Maria Iascone
Anna Cereda
Térence Miao
Eric LeGuern
Emanuela Argilli
Elliott Sherr
Oana Caluseriu
Timothy Tidwell
Pinar Bayrak-Toydemir
Caroline Hagedorn
Melanie Brugger
Katharina Vill
Francois-Dominique Morneau-Jacob
Wendy Chung
Kathryn N Weaver
Joshua W Owens
Ammar Husami
Bimal P Chaudhari
Brandon S Stone
Katie Burns
Rachel Li
Iris M de Lange
Margaux Biehler
Emmanuelle Ginglinger
Bénédicte Gérard
Rolf W Stottmann
Aurélien Trimouille
Affiliated Authors:
Wendy Chung
Columbia Affiliation:
Subjects:
Intellectual Disability (MeSH)
Microcephaly (MeSH)
Periventricular Nodular Heterotopia (MeSH)
Author Keywords:
epilepsy
human genetics
sequence analysis, dna
elink
Publication Type:
Article
Unique ID:
10.1136/jmg-2022-108803
PMID:
37185208
DOI:
10.1136/jmg-2022-108803
Journal:
Journal of Medical Genetics
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record

Record Created: