Follicular atrophoderma associated with skeletal defects, cataracts, and alopecia

European Journal of Pediatrics

Volumn 160, Issue 8, 2001, Pages 513-514

  Hwong, Heidi K ^a   Lewis, Alan T ^a   Hsu, Sylvia ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALOPECIA; ARTICLE; CALCIFYING CHONDRODYSTROPHY; CASE REPORT; CATARACT; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; FEMALE; GENODERMATOSIS; HUMAN; PRESCHOOL CHILD; PRIORITY JOURNAL; SKELETON MALFORMATION; SKIN ATROPHY;

EID: 0034929186     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/PL00008451     Document Type: Article

References (6)

1. Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7 isomerase cause X-linked dominant Conradi-Hünermann syndrome
2. Peroxisomal enzyme deficiency in X-linked dominant Conradi-Hünermann syndrome
3. Vorzeitiges Auftreten von Knochen und eigenartigen verkalkungskernen bei chrondrodystrophia foetalis hypoplastica: Histologische und roentgenuntersuchugen
4. X-linked dominant chondrodysplasia punctata. Review of literature and report of a case
5. The Conradi-Hünermann-Happle syndrome (CDPX2) and emopamil binding protein: Novel mutations, and somatic and gonadal mosaicism
6. Abnormal sterol metabolism in patients with Conradi-Hünermann-Happle syndrome and sporadic lethal chondrodysplasia punctata