Expanding the phenotype of ASXL3‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3

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 unpublish...

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Veröffentlicht in:	American journal of medical genetics. Part A 2021-11, Vol.185 (11), p.3446-3458
Hauptverfasser:	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, Cinzia, Costa, 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., Balasubramanian, Meena
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult ASXL3 ASXL3‐related syndrome Bainbridge–Ropers syndrome BRPS Child Child, Preschool Developmental Disabilities - epidemiology Developmental Disabilities - genetics Developmental Disabilities - physiopathology Female Genetic Predisposition to Disease Genetic Variation - genetics Genotype & phenotype Humans Hypertelorism - genetics Hypertelorism - physiopathology intellectual disability Intellectual Disability - genetics Intellectual Disability - physiopathology Male Muscle Hypotonia - genetics Muscle Hypotonia - physiopathology Mutation - genetics Neurodevelopmental disorders Neurodevelopmental Disorders - epidemiology Neurodevelopmental Disorders - genetics Neurodevelopmental Disorders - physiopathology Phenotype Phenotypes speech impairment Transcription Factors - genetics Young Adult
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