A novel mosaic variant on SMC1A reported in buccal mucosa cells, albeit not in blood, of a patient with Cornelia de Lange-like presentation.
Gonzalez Garcia A, Malone J, Li H. A novel mosaic variant on SMC1A reported in buccal mucosa cells, albeit not in blood, of a patient with Cornelia de Lange-like presentation. Cold Spring Harb Mol Case Stud. 2020 06; 6(3).