1.
J Appl Genet
; 49(1): 101-3, 2008.
Artigo
em Inglês
| MEDLINE
| ID: mdl-18263975
RESUMO
We present the case of a 9-year-old boy with DOOR syndrome recognized in the first year of his life because of a delayed development of speech. The diagnosis was based on characteristic abnormalities, including congenital deafness, nail and bone abnormalities, and mild mental retardation.