Detalhe da pesquisa
1.
JAM2 variants can be more common in primary familial brain calcification (PFBC) cases than those appear; may be due to a founder mutation.
Neurol Sci
; 2024 Mar 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38441788
2.
Description of Phenotypic Heterogeneity in a GJC2-Related Family and Literature Review.
Mol Syndromol
; 14(5): 405-415, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37915394