Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays

Ganapathi, M., Matsuoka, L. S., March, M., Li, D., Brokamp, E., Benito-Sanz, S., White, S. M., Lachlan, K., Ahimaz, P., Sewda, A., Bastarache, L., Thomas-Wilson, A., Stoler, J. M., Bramswig, N. C., Baptista, J., Stals, K., Demurger, F., Cogne, B., … Isidor, B. (2023). Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays. European Journal of Human Genetics, 31(10), 1117–1124. https://doi.org/10.1038/s41431-023-01434-5
Authors:
Mythily Ganapathi
Leticia S Matsuoka
Michael March
Dong Li
Elly Brokamp
Sara Benito-Sanz
Susan M White
Katherine Lachlan
Priyanka Ahimaz
Anshuman Sewda
Lisa Bastarache
Amanda Thomas-Wilson
Joan M Stoler
Nuria C Bramswig
Julia Baptista
Karen Stals
Florence Demurger
Benjamin Cogne
Bertrand Isidor
Maria Francesca Bedeschi
Angela Peron
Jeanne Amiel
Elaine Zackai
John P Schacht
Alejandro D Iglesias
Jenny Morton
Ariane Schmetz
Verónica Seidel
Stephanie Lucia
Stephanie M Baskin
Isabelle Thiffault
Joy D Cogan
Christopher T Gordon
Wendy K Chung
Sarah Bowdin
Elizabeth Bhoj
Affiliated Authors:
Mythily Ganapathi
Priyanka Ahimaz
Anshuman Sewda
Amanda Thomas-Wilson
John P Schacht
Alejandro D Iglesias
Wendy K Chung
Columbia Affiliation:
Subjects:
Abnormalities, Multiple (MeSH)
Heart Defects, Congenital (MeSH)
Hernias, Diaphragmatic, Congenital (MeSH)
Intellectual Disability (MeSH)
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Publication Type:
Article
Unique ID:
10.1038/s41431-023-01434-5
PMID:
37500725
DOI:
10.1038/s41431-023-01434-5
Journal:
European Journal of Human Genetics
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record
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Record Created: