Detalhe da pesquisa
1.
Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability.
J Hum Genet
; 69(3-4): 163-167, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38228874
2.
A Brazilian case arising from a homozygous canonical splice site SLC35A3 variant leading to an in-frame deletion.
Clin Genet
; 99(4): 607-608, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33416188