Detalhe da pesquisa
1.
Two novel homozygous variants of ATP6V0A2 and ALDH18A1 lead to autosomal recessive cutis laxa type 2 and 3 in two Pakistani families.
J Gene Med
; 25(10): e3522, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37119015
2.
Report of Hermansky-Pudlak Syndrome in Two Families with Novel Variants in HPS3 and HPS4 Genes.
Genes (Basel)
; 14(1)2023 01 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36672886