Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies

Dworschak, G. C., Punetha, J., Kalanithy, J. C., Mingardo, E., Erdem, H. B., Akdemir, Z. C., Karaca, E., Mitani, T., Marafi, D., Fatih, J. M., Jhangiani, S. N., Hunter, J. V., Dakal, T. C., Dhabhai, B., Dabbagh, O., Alsaif, H. S., Alkuraya, F. S., Maroofian, R., Houlden, H., … Reutter, H. (2021). Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies. Genetics in Medicine, 23(9), 1715–1725. https://doi.org/10.1038/s41436-021-01196-9
Authors:
Gabriel C. Dworschak
Jaya Punetha
Jeshurun C. Kalanithy
Enrico Mingardo
Haktan B. Erdem
Zeynep C. Akdemir
Ender Karaca
Tadahiro Mitani
Dana Marafi
Jawid M. Fatih
Shalini N. Jhangiani
Jill V. Hunter
Tikam Chand Dakal
Bhanupriya Dhabhai
Omar Dabbagh
Hessa S. Alsaif
Fowzan S. Alkuraya
Reza Maroofian
Henry Houlden
Stephanie Efthymiou
Natalia Dominik
Vincenzo Salpietro
Tipu Sultan
Shahzad Haider
Farah Bibi
Holger Thiele
Julia Hoefele
Korbinian M. Riedhammer
Matias Wagner
Ilaria Guella
Michelle Demos
Boris Keren
Julien Buratti
Perrine Charles
Caroline Nava
Delphine Héron
Solveig Heide
Elise Valkanas
Leigh B. Waddell
Kristi J. Jones
Emily C. Oates
Sandra T. Cooper
Daniel MacArthur
Steffen Syrbe
Andreas Ziegler
Konrad Platzer
Volkan Okur
Wendy K. Chung
Sarah A. O’Shea
Roy Alcalay
Stanley Fahn
Paul R. Mark
Renzo Guerrini
Annalisa Vetro
Beth Hudson
Rhonda E. Schnur
George E. Hoganson
Jennifer E. Burton
Meriel McEntagart
Tobias Lindenberg
Öznur Yilmaz
Benjamin Odermatt
Davut Pehlivan
Jennifer E. Posey
James R. Lupski
Heiko Reutter
Affiliated Authors:
Volkan Okur
Wendy K. Chung
Sarah A. O’Shea
Roy Alcalay
Stanley Fahn
Columbia Affiliation:
elink
Publication Type:
Article
Unique ID:
10.1038/s41436-021-01196-9
PMID:
34054129
DOI:
10.1038/s41436-021-01196-9
Journal:
Genetics in Medicine
Publication Date:
Data Source:
Scopus
Source Link:
View Scopus Record

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