Abnormal sterol metabolism in patients with Conradi-Hunermann-Happle syndrome and sporadic lethal chondrodysplasia punctata

American Journal of Medical Genetics

Volumn 83, Issue 3, 1999, Pages 213-219

  Kelley, Richard I ^a,d   Wilcox, William G ^b   Smith, Moyra ^c   Kratz, Lisa E ^a   Moser, Ann ^a   Rimoin, David S ^b  

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

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d KENNEDY KRIEGER INSTITUTE   (United States)

Author keywords

Cholesterol metabolism; Chondrodysplasia punctata; Rhizomelic dwarfism

Indexed keywords

CHOLESTEROL;

ARTICLE; CALCIFYING CHONDRODYSTROPHY; CHILD; CHOLESTEROL METABOLISM; CHONDRODYSPLASIA; CHONDRODYSPLASIA PUNCTATA; CHONDROPATHY; CLINICAL ARTICLE; DWARFISM; ENZYME DEFICIENCY; FETUS; HUMAN; INFANT; PRIORITY JOURNAL; SYNDROME DELINEATION; X CHROMOSOME LINKAGE;

ABNORMALITIES, MULTIPLE; CHONDRODYSPLASIA PUNCTATA; GENES, LETHAL; HUMANS; LIPID METABOLISM, INBORN ERRORS; STEROLS; SYNDROME;

EID: 0033582939     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990319)83:3<213::AID-AJMG15>3.0.CO;2-C     Document Type: Article

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