Carrier Frequency of the Common Mutation IVS8-1G>C in DHCR7 and Estimate of the Expected Incidence of Smith–Lemli–Opitz Syndrome
- 1 January 2001
- journal article
- Published by Elsevier in Molecular Genetics and Metabolism
- Vol. 72 (1) , 67-71
- https://doi.org/10.1006/mgme.2000.3103
Abstract
No abstract availableKeywords
This publication has 25 references indexed in Scilit:
- Mutations in the Human Sterol Δ7-Reductase Gene at 11q12-13 Cause Smith-Lemli-Opitz SyndromeAmerican Journal of Human Genetics, 1998
- Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype.Journal of Medical Genetics, 1998
- Molecular cloning and expression of the human Δ7-sterol reductaseProceedings of the National Academy of Sciences, 1998
- Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolismAmerican Journal of Medical Genetics, 1997
- Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes.Journal of Clinical Investigation, 1995
- Abnormal cholesterol metabolism in the Smith‐Lemli‐Opitz syndrome: Report of clinical and biochemical findings in four patients and treatment in one patientAmerican Journal of Medical Genetics, 1994
- Defective Cholesterol Biosynthesis Associated with the Smith-Lemli-Opitz SyndromeNew England Journal of Medicine, 1994
- Smith‐Lemli‐Opitz syndrome‐type II: Multiple congenital anomalies with male pseudohermaphroditism and frequent early lethalityAmerican Journal of Medical Genetics, 1987
- Borderline normal intelligence in the Smith‐Lemli‐Opitz (RSH) syndromeAmerican Journal of Medical Genetics, 1980
- A newly recognized syndromeof multiple congenital anomaliesThe Journal of Pediatrics, 1964