Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies
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Published:2021-09
Issue:9
Volume:23
Page:1715-1725
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ISSN:1098-3600
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Container-title:Genetics in Medicine
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language:en
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Short-container-title:Genetics in Medicine
Author:
Dworschak Gabriel C.ORCID, Punetha Jaya, Kalanithy Jeshurun C., Mingardo Enrico, Erdem Haktan B., Akdemir Zeynep C., Karaca Ender, Mitani Tadahiro, Marafi Dana, Fatih Jawid M., Jhangiani Shalini N., Hunter Jill V., Dakal Tikam Chand, Dhabhai Bhanupriya, Dabbagh Omar, Alsaif Hessa S., Alkuraya Fowzan S., Maroofian Reza, Houlden Henry, Efthymiou Stephanie, Dominik Natalia, Salpietro Vincenzo, Sultan Tipu, Haider Shahzad, Bibi Farah, Thiele Holger, Hoefele Julia, Riedhammer Korbinian M., Wagner Matias, Guella Ilaria, Demos Michelle, Keren Boris, Buratti Julien, Charles Perrine, Nava Caroline, Héron Delphine, Heide Solveig, Valkanas Elise, Waddell Leigh B., Jones Kristi J., Oates Emily C., Cooper Sandra T., MacArthur Daniel, Syrbe Steffen, Ziegler Andreas, Platzer Konrad, Okur Volkan, Chung Wendy K., O’Shea Sarah A., Alcalay Roy, Fahn Stanley, Mark Paul R., Guerrini Renzo, Vetro Annalisa, Hudson Beth, Schnur Rhonda E., Hoganson George E., Burton Jennifer E., McEntagart Meriel, Lindenberg Tobias, Yilmaz Öznur, Odermatt Benjamin, Pehlivan Davut, Posey Jennifer E., Lupski James R., Reutter Heiko
Funder
Deutsche Forschungsgemeinschaft
Subject
Genetics (clinical)
Cited by
19 articles.
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