Conradi-Hünermann-Happle syndrome (X-linked dominant chondrodysplasia punctata) confirmed by plasma sterol and mutation analysis

Acta Dermato-Venereologica

Volumn 88, Issue 1, 2008, Pages 47-51

  Kolb Mäurer, Annette ^a   Grzeschik, Karl Heinz ^b   Haas, Dorothea ^c   Bröcker, Eva Bettina ^a   Hamm, Henning ^a  

^a UNIVERSITY OF WÜRZBURG   (Germany)

^b PHILIPPS UNIVERSITY MARBURG   (Germany)

^c UNIVERSITY OF HEIDELBERG   (Germany)

Author keywords

Cholesterol biosynthesis; Conradi H nermann Happle syndrome; Emopamil binding protein; Plasma lipid analysis; X linked dominant chondrodysplasia punctata

Indexed keywords

STEROL;

ANAMNESIS; ARTICLE; CALCIFYING CHONDRODYSTROPHY; CASE REPORT; CHONDRODYSPLASIA PUNCTATA; CLINICAL FEATURE; ERYTHEMA; FEMALE; HUMAN; LIPID BLOOD LEVEL; MISSENSE MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SKIN EXAMINATION; X CHROMOSOME LINKED DISORDER;

ALOPECIA; CATARACT; CHILD, PRESCHOOL; CHOLESTADIENOLS; CHOLESTEROL; CHONDRODYSPLASIA PUNCTATA; CRANIOFACIAL ABNORMALITIES; DNA MUTATIONAL ANALYSIS; EYE; FEMALE; GENES, DOMINANT; HUMANS; HYPOPIGMENTATION; MUTATION, MISSENSE; SKIN; STEROID ISOMERASES;

EID: 38949085895     PISSN: 00015555     EISSN: None     Source Type: Journal    
DOI: 10.2340/00015555-0337     Document Type: Article

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