Mutational spectrum of Smith-Lemli-Opitz syndrome

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

Volumn 160 C, Issue 4, 2012, Pages 263-284

  Waterham, Hans R ^a   Hennekam, Raoul C M ^a,b  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

7 dehydrocholesterol (7DHC); Cholesterol; DHCR7; Inborn error of metabolism; Review; Severity score; SLOS; Smith Lemli Opitz syndrome

Indexed keywords

7 DEHYDROCHOLESTEROL; 7 DEHYDROCHOLESTEROL REDUCTASE; CHOLESTEROL; OXIDOREDUCTASE; UNCLASSIFIED DRUG;

ARTICLE; CATALYSIS; CHOLESTEROL SYNTHESIS; CLINICAL FEATURE; DISEASE SEVERITY; FRAMESHIFT MUTATION; GENE DELETION; GENE IDENTIFICATION; GENE INSERTION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC CODE; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INDEL MUTATION; MISSENSE MUTATION; NONSENSE MUTATION; PRIORITY JOURNAL; RNA SPLICING; SMITH LEMLI OPITZ SYNDROME;

DEHYDROCHOLESTEROLS; FEMALE; GENOTYPE; HUMANS; MUTATION; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; SEVERITY OF ILLNESS INDEX; SMITH-LEMLI-OPITZ SYNDROME;

EID: 84867905845     PISSN: 15524868     EISSN: 15524876     Source Type: Journal    
DOI: 10.1002/ajmg.c.31346     Document Type: Article

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