De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features

Pan, X., Tao, A. M., Lu, S., Ma, M., Hannan, S. B., Slaugh, R., Drewes Williams, S., O’Grady, L., Kanca, O., Person, R., Carter, M. T., Platzer, K., Schnabel, F., Abou Jamra, R., Roberts, A. E., Newburger, J. W., Revah-Politi, A., Granadillo, J. L., Stegmann, A. P. A., … Bellen, H. J. (2024). De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features. The American Journal of Human Genetics, 111(4), 742–760. https://doi.org/10.1016/j.ajhg.2024.02.007
Authors:
Xueyang Pan
Alice M Tao
Shenzhao Lu
Mengqi Ma
Shabab B Hannan
Rachel Slaugh
Sarah Drewes Williams
Lauren O'Grady
Oguz Kanca
Richard Person
Melissa T Carter
Konrad Platzer
Franziska Schnabel
Rami Abou Jamra
Amy E Roberts
Jane W Newburger
Anya Revah-Politi
Jorge L Granadillo
Alexander P A Stegmann
Margje Sinnema
Andrea Accogli
Vincenzo Salpietro
Valeria Capra
Lina Ghaloul-Gonzalez
Martina Brueckner
Marleen E H Simon
David A Sweetser
Kevin E Glinton
Susan E Kirk
Michael F Wangler
Shinya Yamamoto
Wendy K Chung
Hugo J Bellen
Affiliated Authors:
Alice M Tao
Anya Revah-Politi
Columbia Affiliation:
Subjects:
Intellectual Disability (MeSH)
Musculoskeletal Abnormalities (MeSH)
Author Keywords:
developmental delay
drosophila
fryl
furry
intellectual disability
rare disease
elink
Publication Type:
Article
Unique ID:
10.1016/j.ajhg.2024.02.007
PMID:
38479391
DOI:
10.1016/j.ajhg.2024.02.007
Journal:
American Journal of Human Genetics
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record
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Record Created: