Mutational Spectrum in the Δ7-Sterol Reductase Gene and Genotype-Phenotype Correlation in 84 Patients with Smith-Lemli-Opitz Syndrome

This publication has 29 references indexed in Scilit:

• Smith-Lemli-Opitz Syndrome Is Caused by Mutations in the 7-Dehydrocholesterol Reductase Gene
  The American Journal of Human Genetics, 1998
• Mutations in the Human Sterol Δ7-Reductase Gene at 11q12-13 Cause Smith-Lemli-Opitz Syndrome
  The American Journal of Human Genetics, 1998
• Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts
  Clinica Chimica Acta, 1995
• Abnormal cholesterol metabolism in the Smith‐Lemli‐Opitz syndrome: Report of clinical and biochemical findings in four patients and treatment in one patient
  American Journal of Medical Genetics, 1994
• RSH/SLO (“Smith‐Lemli‐Opitz”) syndrome: Historical, genetic, and developmental considerations
  American Journal of Medical Genetics, 1994
• Defective Cholesterol Biosynthesis Associated with the Smith-Lemli-Opitz Syndrome
  New England Journal of Medicine, 1994
• Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome
  The Lancet, 1993
• Smith‐Lemli‐Opitz syndrome‐type II: Multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality
  American Journal of Medical Genetics, 1987
• Enzymatic Amplification of β-Globin Genomic Sequences and Restriction Site Analysis for Diagnosis of Sickle Cell Anemia
  Science, 1985
• A newly recognized syndromeof multiple congenital anomalies
  The Journal of Pediatrics, 1964