Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability.
Inoue Y, Tsuchida N, Kim CA, de Oliveira Stephan B, Castro MAA, Honjo RS, Bertola DR, Uchiyama Y, Hamanaka K, Fujita A, et al. J Hum Genet. 2024 Apr; 69(3-4):163-167. Epub 2024 Jan 17.