Detalhe da pesquisa
1.
A recurrent homozygous LMNA missense variant p.Thr528Met causes atypical progeroid syndrome characterized by mandibuloacral dysostosis, severe muscular dystrophy, and skeletal deformities.
Am J Med Genet A
; 191(9): 2274-2289, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37387251
2.
A novel bi-allelic loss-of-function mutation in STIM1 expands the phenotype of STIM1-related diseases.
Clin Genet
; 100(1): 84-89, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33733462