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Review
. 1999 Jan;8(1):29-40.

Further delineation of the classical Smith-Lemli-Opitz syndrome phenotype at different patient ages: clinical and biochemical studies

M Krajewska-Walasek  1 , W Gradowska, J Ryzko, P Socha, J Chmielik, W Szapłyko, J Kasprzyk, B Górska, M Szreter, J Wolski, H Rysiewski, E M Małunowicz, H Gregorek, J Michałkiewicz, E Pietraszek, J Szapłyko
Affiliations
  • PMID: 10327249
Review

Further delineation of the classical Smith-Lemli-Opitz syndrome phenotype at different patient ages: clinical and biochemical studies

M Krajewska-Walasek et al. Clin Dysmorphol. 1999 Jan.

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.

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