Variant RSH/Smith-Lemli-Opitz syndrome with atypical sterol metabolism

American Journal of Medical Genetics

Volumn 78, Issue 5, 1998, Pages 413-418

  Anderson, Arne J ^a   Stephan, Mark J ^a   Walker, William O ^a   Kelley, Richard I ^b,c  

^a MADIGAN ARMY MEDICAL CENTER   (United States)

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c KENNEDY KRIEGER INSTITUTE   (United States)

Author keywords

7 dehydrocholesterol; Cholesterol; Growth failure; Multiple congenital anomaly syndrome; Smith Lemli Opitz syndrome; Syndactyly

Indexed keywords

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

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; CHOLESTEROL SYNTHESIS; CLEFT PALATE; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; FACE MALFORMATION; FEMALE; FETAL CALF SERUM; GENITAL MALFORMATION; GROWTH RETARDATION; HUMAN; HUMAN CELL; LIMB MALFORMATION; LYMPHOBLAST; MALE; MICROCEPHALY; PRIORITY JOURNAL; SIBLING; SMITH LEMLI OPITZ SYNDROME; STEROL METABOLISM;

CHOLESTEROL; CHOLESTEROL, DIETARY; DEHYDROCHOLESTEROLS; DIAGNOSIS, DIFFERENTIAL; FEMALE; GENES, RECESSIVE; GROWTH DISORDERS; HUMANS; INFANT; LYMPHOCYTES; MALE; NUCLEAR FAMILY; PHENOTYPE; SMITH-LEMLI-OPITZ SYNDROME; STEROLS;

EID: 0031876967     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19980806)78:5<413::AID-AJMG4>3.0.CO;2-M     Document Type: Article

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