Detalhe da pesquisa
1.
Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder.
Am J Hum Genet
; 108(6): 1069-1082, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34022130
2.
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.
Genet Med
; 25(1): 135-142, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36399134
3.
Martsolf syndrome with novel mutation in the TBC1D20 gene in a family from Iran.
Am J Med Genet A
; 182(5): 957-961, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32162791