The Smith-Lemli-Opitz syndrome

Journal of Medical Genetics

Volumn 37, Issue 5, 2000, Pages 321-335

  Kelley, Richard I ^a   Hennekam, Raoul C M ^b  

^a JOHNS HOPKINS UNIVERSITY   (United States)

^b UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

7 Dehydrocholesterol reductase; Cholesterol metabolism; Clinical history; Management; Smith Lemli Opitz syndrome

Indexed keywords

7 DEHYDROCHOLESTEROL; CHOLESTEROL; HOMEODOMAIN PROTEIN; OXIDOREDUCTASE; SONIC HEDGEHOG PROTEIN; STEROID HORMONE;

ADRENAL DISEASE; CARDIOVASCULAR MALFORMATION; CENTRAL NERVOUS SYSTEM MALFORMATION; CHILD; CHILD BEHAVIOR; CHOLESTEROL INTAKE; CHOLESTEROL SYNTHESIS; CHROMOSOME 11Q; CHROMOSOME 7Q; CHROMOSOME BREAKAGE; CRANIOFACIAL MALFORMATION; DIFFERENTIAL DIAGNOSIS; DISEASE SEVERITY; DISORDERS OF CHOLESTEROL METABOLISM; EMBRYO DEVELOPMENT; ENZYME DEFICIENCY; GASTROINTESTINAL DISEASE; GENE DELETION; GENITAL MALFORMATION; HUMAN; INCIDENCE; INFANT; KIDNEY DISEASE; LIFE EXPECTANCY; LUNG DISEASE; MENTAL DEVELOPMENT; MISSENSE MUTATION; MORPHOGENESIS; NEWBORN; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; REVIEW; SCORING SYSTEM; SIGNAL TRANSDUCTION; SKELETON MALFORMATION; SMITH LEMLI OPITZ SYNDROME;

EID: 0034097540     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.37.5.321     Document Type: Review

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