Detalhe da pesquisa
1.
Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay.
J Med Genet
; 60(11): 1092-1104, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37316189