Frameshift Variant in ARID2 in a Chilean Individual with Coffin-Siris Syndrome Phenotype.

Autor: Martin Merlez F; Clinical Hospital, University of Chile, Santiago, Chile., González Zalazar M; Clinical Hospital, University of Chile, Santiago, Chile., Castillo Taucher S; Division of Genetics, Clinical Hospital, University of Chile, Santiago, Chile.; Clinical Laboratory Division Cytogenetics, Santiago, Chile.

Publikováno v: Journal of pediatric genetics [J Pediatr Genet] 2021 Dec 24; Vol. 13 (2), pp. 149-153. Date of Electronic Publication: 2021 Dec 24 (Print Publication: 2024).