1.
Hum Genet
; 47(2): 135-40, 1979 Mar 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-437781
RESUMO
A boy with severe retardation of growth and development, minor dysmorphic features, severe congenital heart disease, and a 46,XY,8p-karyotype is described. The clinical findings of this boy are compared with those of others reported monosomic for a portion of the short arm of chromosome 8. The red cell glutathione reductase (GSR) level is normal in our patient.