Concepedia

Publication | Closed Access

Further delineation of the classical Smith-Lemli-Opitz syndrome phenotype at different patient ages

DOI

15

Citations

0

References

1999

Year

Małgorzata Krajewska‐Walasek, Wanda Gradowska, Józef Ryżko, Piotr Socha, J Chmielik, Waldemar Szap yko, Jolanta Kasprzyk, Bozena G rska, Miros awa Szreter, Jan Wolski,
Clinical Dysmorphology

Abstract

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.