1.
Clin Dysmorphol
; 8(1): 29-40, 1999 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-10327249
RESUMO
We present here extensive clinical and biochemical data on thirteen SLOS (type I) patients with proven defect in cholesterol biosynthesis for further delineation of the classical SLOS phenotype at different patient ages.