Homozygosity for the W151X stop mutation in the Δ7-sterol reductase gene (DHCR7) causing a lethal form of Smith-Lemli-Opitz syndrome: Retrospective molecular diagnosis

American Journal of Medical Genetics

Volumn 95, Issue 2, 2000, Pages 174-177

  Löffler, Judith ^a   Trojovsky, Alexander ^b   Casati, Bettina ^c   Kroisel, Peter M ^b   Utermann, Gerd ^a  

^a UNIVERSITY OF INNSBRUCK   (Austria)

^b MEDICAL UNIVERSITY OF GRAZ   (Austria)

^c MEDICAL UNIVERSITY OF VIENNA   (Austria)

Author keywords

Homozygosity for W151X; Lethal form of SLOS; Mutations in the DHCR7 gene; RSH syndrome; Smith Lemli Opitz syndrome

Indexed keywords

7 DEHYDROCHOLESTEROL REDUCTASE; OXIDOREDUCTASE; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; AUSTRIA; CASE REPORT; CHOLESTEROL METABOLISM; CLINICAL FEATURE; FEMALE; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; HOMOZYGOSITY; HUMAN; NEWBORN; PRIORITY JOURNAL; SMITH LEMLI OPITZ SYNDROME;

ABNORMALITIES, MULTIPLE; ABORTION, SPONTANEOUS; ALLELES; AUTOPSY; CASE REPORT; CODON, TERMINATOR; DNA MUTATIONAL ANALYSIS; EXONS; FATAL OUTCOME; FEMALE; HOMOZYGOTE; HUMAN; INFANT, NEWBORN; MALE; MUTATION; OXIDOREDUCTASES; PHENOTYPE; PREGNANCY; SMITH-LEMLI-OPITZ SYNDROME; SUPPORT, NON-U.S. GOV'T;

EID: 0034645527     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/1096-8628(20001113)95:2<174::AID-AJMG16>3.0.CO;2-9     Document Type: Article

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