Detalhe da pesquisa
1.
Two unrelated families with variable expression of Fraser syndrome due to the same pathogenic variant in the FRAS1 gene.
Am J Med Genet A
; 182(4): 773-779, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31999076
2.
A 23-year follow-up of a male with Hajdu-Cheney syndrome due to NOTCH2 mutation.
Am J Med Genet A
; 176(11): 2382-2388, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30329210
3.
Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin-Goltz syndrome and features of Nail-Patella syndrome.
Am J Med Genet A
; 124A(2): 179-91, 2004 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-14699618