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Heterozygous Loss-of-function SMC3 Variants Are Associated with Variable Growth and Developmental Features.

Morad Ansari,Kamli N. W. Faour,Akiko Shimamura,Graeme Grimes, Emeline M. Kao,Erica R. Denhoff,Ana Blatnik,Daniel Ben-Isvy,Lily Wang,Benjamin M. Helm,Helen Firth,Amy M. Breman,Emilia K. Bijlsma,Aiko Iwata-Otsubo,Thomy J. L. de Ravel,Vincent Fusaro,Alan Fryer,Keith Nykamp,Lara G. Stuhn,Tobias B. Haack,G. Christoph Korenke,Panayioti Constantinou, Kinga M. Bujakowksa,Karen J. Low,Emily Place,Jennifer Humberson, Melanie P. Napier,Jessica Hoffman,Jane Juusola,Matthew A. Deardorff,Wanqing Shao,Shira Rockowitz,Ian Krantz,Maninder Kaur,Sarah Raible, Victoria Dortenzio,Sabine Kliesch,Moriel Singer-Berk,Emily Groopman,Stephanie DiTroia,Sonia Ballal,Siddharth Srivastava, Kathrin Rothfelder,Saskia Biskup,Jessica Rzasa,Jennifer Kerkhof,Haley McConkey,Bekim Sadikovic,Sarah Hilton,Siddharth Banka,Frank Tuettelmann,Donald F. Conrad,Anne O'Donnell-Luria,Michael E. Talkowski,David R. Fitzpatrick,Philip M. Boone

Human Genetics and Genomics Advances（2024）

Cited 1|Views8
Key words
Cornelia de Lange syndrome,SMC3,loss-of-function,cohesin,CdLS3,LoF
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