CHILD syndrome caused by deficiency of 3β-hydroxysteroid-Δ8, Δ7- isomerase

American Journal of Medical Genetics

Volumn 90, Issue 4, 2000, Pages 328-335

  Grange, Dorothy K ^a,c   Kratz, Lisa E ^b   Braverman, Nancy E ^b   Kelley, Richard I ^b  

^a SAINT LOUIS UNIVERSITY SCHOOL OF MEDICINE   (United States)

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

^c Cardinal Glennon Hospital   (United States)

Author keywords

3 hydroxysteroid 8, 7 isomerase; CHILD syndrome; Chondrodysplasia punctata; Hemidysplasia; Ichthyosiform erythroderma; Sterol metabolism

Indexed keywords

3 BETA HYDROXYSTEROID DELTA 8, DELTA 7 ISOMERASE; 7 DEHYDROCHOLESTEROL; STEROID DELTA ISOMERASE; UNCLASSIFIED DRUG;

ARTICLE; CALCIFYING CHONDRODYSTROPHY; CASE REPORT; CELL DEATH; CHILD; CHONDRODYSPLASIA; DYSPLASIA; ENZYME DEFICIENCY; ERYTHRODERMA; EXON; FEMALE; HUMAN; ICHTHYOSIS; INFLAMMATORY INFILTRATE; LIMB DEFECT; NONSENSE MUTATION; PRIORITY JOURNAL; SKIN DEFECT; STEROL METABOLISM;

ABNORMALITIES, MULTIPLE; FEMALE; HUMANS; ICHTHYOSIS, X-LINKED; INFANT; LEG; POINT MUTATION; STEROLS; SYNDROME;

EID: 0033950130     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(20000214)90:4<328::AID-AJMG13>3.0.CO;2-F     Document Type: Article

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