Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders

This study aims to comprehensively delineate the phenotypic spectrum of ACTL6B-related disorders, previously associated with both autosomal recessive and autosomal dominant neurodevelopmental disorders. Molecularly, the role of the nucleolar protein ACTL6B in contributing to the disease has remained...

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Veröffentlicht in:	Genetics in medicine 2024-09, p.101251, Article 101251
Hauptverfasser:	Cali, Elisa, Quirin, Tania, Rocca, Clarissa, Efthymiou, Stephanie, Riva, Antonella, Zaki, Maha S., Suri, Mohnish, Dominguez, Roberto, Abdel-Hamid, Mohamed S., Morsy, Heba, Mau-Them, Frederic Tran, Nizon, Mathilde, Tesner, Pavel, Ryba, Lukáš, Rana, Nuzhat, Saadi, Nebal W., Firoozfar, Zahra, Gencpinar, Pinar, Ustun, Canan, Bruel, Ange-Line, Coubes, Christine, Agolini, Emanuele, Novelli, Antonio, Vasco, Gessica, Lettori, Donatella, Milh, Mathieu, Villard, Laurent, Zeidler, Shimriet, Opperman, Henry, Strehlow, Vincent, Issa, Mahmoud Y., El Khassab, Hebatallah, Ibrahim, Shahnaz, Nejad-Rashidi, Ali, Miryounesi, Mohammad, Larki, Pegah, Thiffault, Isabelle, Noh, Grace J., Pappas, John, Moran, Ellen, Marinakis, Nikolaos M., Traeger-Synodinos, Joanne, Abbaszadegan, Mohammad Reza, Caumes, Roseline, Vissers, Lisenka E.L.M., Neshatdoust, Maedeh, Montazer, Mostafa Zohour, El Fahime, Elmostafa, Canavati, Christin, Kamal, Lara, Kanaan, Moien, Askander, Omar, Voinova, Victoria, Levchenko, Olga, Haider, Shahzhad, Halbach, Sara S., Maia, Elias Rayana, Mansoor, Salehi, Vivek, Jain, Tawde, Sanjukta, Challa, Viveka Santhosh R., Gowda, Vykuntaraju K., Srinivasan, Varunvenkat M., Victor, Lucas Alves, Hague, Jennifer, Ei-Awady, Heba Ahmed, Cheema, Huma Arshad, Anjum, Muhammad Nadeem, Idkaidak, Sara, Alqarajeh, Firas, Zifarelli, Giovanni, Bauer, Peter, Kitajima, Joao Paulo, Monteiro, Fabiola, Lesca, Gaetan, Ville, Dorothe, Murphy, David, Neul, Jeffrey L., Begtrup, Amber, Herman, Isabella, Mitani, Tadahiro, Tay, Chee Geap, Javed, Iram, Carr, Lucinda, Kanani, Farah, Beecroft, Fiona, Hane, Lee, Abdelkreem, Elsayed, Bispo, Luciana, Elmaksoud, Marwa Abd, Hashemi-Gorji, Farzad, Pehlivan, Davut, Jamra, Rami Abou, Chung, Wendy K., Ghayoor, Eshan Karimiani, Campeau, Philippe, Alkuraya, Fowzan S., Gleeson, Joseph, Moreno-De-Luca, Andres, Lafontaine, Denis L.J.
Format:	Artikel
Sprache:	eng
Schlagworte:	ACTL6B Autism BAFopathies Epileptic-dyskinetic encephalopathy Ribosomopathies
Online-Zugang:	Volltext
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