Article
Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.
American journal of medical genetics. Part A - 1 Nov 2021
Schirwani Schaida, Albaba Shadi, Carere Deanna Alexis, Guillen Sacoto Maria J, Milan Zamora Francisca, Si Yue, Rabin Rachel, Pappas John, Renaud Deborah L, Hauser Natalie, Reid Evan, Blanchet Patricia, Foulds Nichola, Dixit Abhijit, Fisher Richard, Armstrong Ruth, Isidor Bertrand, Cogne Benjamin, Schrier Vergano Samantha, Demirdas Serwet, Dykzeul Natalie, Cohen Julie S, Grand Katheryn, Morel Dayna, Slavotinek Anne, Albassam Hessa F, Naik Swati, Dean John, Ragge Nicola, Costa Cinzia, Tedesco Maria Giovanna, Harrison Rachel E, Bouman Arjan, Palen Emily, Challman Thomas D, Willemsen Marjolein H, Vogt Julie, Cunniff Christopher, Bergstrom Katherine, Walia Jagdeep S, Bruel Ange-Line, Kini Usha, Alkuraya Fowzan S, Slegesky Valerie, Meeks Naomi, Girotto Paula, Johnson Diana, Newbury-Ecob Ruth, Ockeloen Charlotte W, Prontera Paolo, Lynch Sally Ann, Li Dong, Graham John M, Pierson Tyler Mark, Balasubramanian Meena
Abstract excerpt
The study aimed at widening the clinical and genetic spectrum of ASXL3-related syndrome, a neurodevelopmental disorder, caused by truncating variants in the ASXL3 gene. In this international collaborative study, we have undertaken a detailed clinical and molecular analysis of 45 previously unpublished individuals with ASXL3-related syndrome, as well as a review of all previously published individuals. We have...
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