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Expanding the Phenotype of ASXL3‐related Syndrome: A Comprehensive Description of 45 Unpublished Individuals with Inherited and De Novo Pathogenic Variants in ASXL3

Schaida Schirwani,Shadi Albaba,Deanna Alexis Carere,Maria J. Guillen Sacoto,Francisca Milan Zamora,Yue Si,Rachel Rabin,John Pappas,Deborah L. Renaud,Natalie Hauser,Evan Reid,Patricia Blanchet,Nichola Foulds,Abhijit Dixit,Richard Fisher,Ruth Armstrong,Bertrand Isidor,Benjamin Cogne,Samantha Schrier Vergano,Serwet Demirdas,Natalie Dykzeul,Julie S. Cohen,Katheryn Grand,Dayna Morel,Anne Slavotinek,Hessa F. Albassam,Swati Naik,John Dean,Nicola Ragge,Costa Cinzia,Maria Giovanna Tedesco,Rachel E. Harrison,Arjan Bouman,Emily Palen,Thomas D. Challman,Marjolein H. Willemsen,Julie Vogt,Christopher Cunniff,Katherine Bergstrom,Jagdeep S. Walia,Ange-Line Bruel,Usha Kini,Fowzan S. Alkuraya,Valerie Slegesky,Naomi Meeks,Paula Girotto,Diana Johnson,Ruth Newbury-Ecob,Charlotte W. Ockeloen,Paolo Prontera,Sally Ann Lynch,Dong Li,John M. Graham,Meena Balasubramanian

AMERICAN JOURNAL OF MEDICAL GENETICS PART A（2021）

引用 16|浏览60
关键词
ASXL3,ASXL3-related syndrome,Bainbridge-Ropers syndrome,BRPS,intellectual disability,speech impairment
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