DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome
- 5 April 2001
- journal article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 100 (2) , 162-163
Abstract
No abstract availableKeywords
This publication has 10 references indexed in Scilit:
- Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: Polymerase chain reaction-based assays to simplify genotypingAmerican Journal of Medical Genetics, 2000
- Chromosome 7q: Where Autism Meets Language Disorder?The American Journal of Human Genetics, 2000
- The Smith-Lemli-Opitz syndromeJournal of Medical Genetics, 2000
- Detection of a common mutation in the RSH or Smith-Lemli-Opitz syndrome by a PCR-RFLP assay: IVS8-1G ? C is found in over sixty percent of US propositiAmerican Journal of Medical Genetics, 2000
- Mutational Spectrum in the Δ7-Sterol Reductase Gene and Genotype-Phenotype Correlation in 84 Patients with Smith-Lemli-Opitz SyndromeThe American Journal of Human Genetics, 2000
- RSH (so-called Smith-Lemli-Opitz) syndromeCurrent Opinion in Pediatrics, 1999
- Smith-Lemli-Opitz syndrome: phenotypic extreme with minimal clinical findingsAmerican Journal of Medical Genetics, 1998
- Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolismAmerican Journal of Medical Genetics, 1997
- A new face for an old syndromeAmerican Journal of Medical Genetics, 1997
- A newly recognized syndromeof multiple congenital anomaliesThe Journal of Pediatrics, 1964