Article
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.
European journal of human genetics : EJHG - 1 Aug 2024
Layo-Carris Dana E, Lubin Emily E, Sangree Annabel K, Clark Kelly J, Durham Emily L, Gonzalez Elizabeth M, Smith Sarina, Angireddy Rajesh, Wang Xiao Min, Weiss Erin, Toutain Annick, Mendoza-Londono Roberto, Dupuis Lucie, Damseh Nadirah, Velasco Danita, Valenzuela Irene, Codina-Solà Marta, Ziats Catherine, Have Jaclyn, Clarkson Katie, Steel Dora, Kurian Manju, Barwick Katy, Carrasco Diana, Dagli Aditi I, Nowaczyk M J M, Hančárová Miroslava, Bendová Šárka, Prchalova Darina, Sedláček Zdeněk, Baxová Alica, Nowak Catherine Bearce, Douglas Jessica, Chung Wendy K, Longo Nicola, Platzer Konrad, Klöckner Chiara, Averdunk Luisa, Wieczorek Dagmar, Krey Ilona, Zweier Christiane, Reis Andre, Balci Tugce, Simon Marleen, Kroes Hester Y, Wiesener Antje, Vasileiou Georgia, Marinakis Nikolaos M, Veltra Danai, Sofocleous Christalena, Kosma Konstantina, Traeger Synodinos Joanne, Voudris Konstantinos A, Vuillaume Marie-Laure, Gueguen Paul, Derive Nicolas, Colin Estelle, Battault Clarisse, Au Billie, Delatycki Martin, Wallis Mathew, Gallacher Lyndon, Majdoub Fatma, Smal Noor, Weckhuysen Sarah, Schoonjans An-Sofie, Kooy R Frank, Meuwissen Marije, Cocanougher Benjamin T, Taylor Kathryn, Pizoli Carolyn E, McDonald Marie T, James Philip, Roeder Elizabeth R, Littlejohn Rebecca, Borja Nicholas A, Thorson Willa, King Kristine, Stoeva Radka, Suerink Manon, Nibbeling Esther, Baskin Stephanie, L E Guyader Gwenaël, Kaplan Julie, Muss Candace, Carere Deanna Alexis, Bhoj Elizabeth J K, Bryant Laura M
Abstract excerpt
Bryant-Li-Bhoj syndrome (BLBS), which became OMIM-classified in 2022 (OMIM: 619720, 619721), is caused by germline variants in the two genes that encode histone H3.3 (H3-3A/H3F3A and H3-3B/H3F3B) [1-4]. This syndrome is characterized by developmental delay/intellectual disability, craniofacial anomalies, hyper/hypotonia, and abnormal neuroimaging [1, 5]. BLBS was initially categorized as a progressive...
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