Lymphedema as first clinical presentation of Cantu Syndrome: reversed phenotyping after identification of gain-of-function variant in ABCC9.
Gao J, McClenaghan C, Christiaans I, Alders M, van Duinen K, van Haelst MM, van Haaften G, Nichols CG. Eur J Hum Genet. 2023 Feb; 31(2):188-194. Epub 2022 Nov 7.