دورية أكاديمية

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

التفاصيل البيبلوغرافية
العنوان: Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies
المؤلفون: Dworschak, Gabriel C.Aff1, Aff2, Aff3, Punetha, JayaAff4, Aff5, Kalanithy, Jeshurun C.Aff1, Aff2, Mingardo, EnricoAff1, Aff2, 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.Aff12, Aff13, Maroofian, Reza, Houlden, Henry, Efthymiou, Stephanie, Dominik, Natalia, Salpietro, Vincenzo, Sultan, Tipu, Haider, Shahzad, Bibi, Farah, Thiele, Holger, Hoefele, Julia, Riedhammer, Korbinian M.Aff19, Aff20, Wagner, MatiasAff19, Aff21, Aff22, Guella, Ilaria, Demos, Michelle, Keren, Boris, Buratti, Julien, Charles, Perrine, Nava, CarolineAff25, Aff26, Héron, Delphine, Heide, Solveig, Valkanas, Elise, Waddell, Leigh B.Aff28, Aff29, Jones, Kristi J.Aff28, Aff29, Oates, Emily C.Aff28, Aff30, Cooper, Sandra T.Aff28, Aff29, Aff31, MacArthur, DanielAff32, Aff33, Aff34, 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, BenjaminAff2, Aff46, Pehlivan, DavutAff4, Aff47, Posey, Jennifer E., Lupski, James R.Aff4, Aff8, Aff48, Aff49, Reutter, HeikoAff1, Aff50
المصدر: Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 23(9):1715-1725
قاعدة البيانات: Springer Nature Journals
الوصف
تدمد:10983600
15300366
DOI:10.1038/s41436-021-01196-9