Smith-Lemli-Opitz syndrome: New mutation with a mild phenotype

American Journal of Medical Genetics

Volumn 108, Issue 1, 2002, Pages 64-68

  Prasad, Chitra ^a   Marles, Sandra ^a   Prasad, Asuri N ^a   Nikkel, Sarah ^a   Longstaffe, Sally ^a   Peabody, Deborah ^a   Eng, Barry ^b   Wright, Sarah ^b   Waye, John S ^b,c   Nowaczyk, Małgorzata J M ^b,c,d  

^a UNIVERSITY OF MANITOBA   (Canada)

^b Hamilton Regional Laboratory Program   (Canada)

^c MCMASTER UNIVERSITY   (Canada)

^d MCMASTER UNIVERSITY MEDICAL CENTRE   (Canada)

Author keywords

7 dehydrocholesterol; Autism spectrum behaviors; DHCR7 mutations; Smith Lemli Opitz syndrome

Indexed keywords

3BETA HYDROXYSTEROL DELTA7 REDUCTASE; 7 DEHYDROCHOLESTEROL; CHOLESTEROL; OXIDOREDUCTASE; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CHOLESTEROL SYNTHESIS; DISEASE SEVERITY; FEMALE; GENE MUTATION; HUMAN; INFANT; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; SMITH LEMLI OPITZ SYNDROME; SYNDROME DELINEATION;

CHOLESTEROL; DEHYDROCHOLESTEROLS; FEMALE; HUMANS; INFANT; MUTATION; OXIDOREDUCTASES; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; PHENOTYPE; SMITH-LEMLI-OPITZ SYNDROME;

EID: 18244387015     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.10211     Document Type: Article

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