Diagnosis: X-linked dominant chondrodysplasia punctata (Conradi-Hünermann-Happle syndrome)

European Journal of Dermatology

Volumn 11, Issue 4, 2001, Pages 389-391

  Krisp, A ^a   Konig A ^a   Hoffmann, R ^a   Happle, R ^a  

^a PHILIPPS UNIVERSITY MARBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CATARACT; CHONDRODYSPLASIA PUNCTATA; CLINICAL FEATURE; DISEASE ASSOCIATION; FEMALE; GENE LOCUS; GENETIC ANALYSIS; HUMAN; PATHOGENESIS; PHYSICAL EXAMINATION; X CHROMOSOME LINKED DISORDER; ALOPECIA; DIFFERENTIAL DIAGNOSIS; LIMB MALFORMATION; PATHOLOGY;

ADULT; ALOPECIA; CHONDRODYSPLASIA PUNCTATA; DIAGNOSIS, DIFFERENTIAL; FEMALE; HUMANS; LIMB DEFORMITIES, CONGENITAL;

EID: 0034936931     PISSN: 11671122     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (5)

1. Sex-linked chondrodysplasia punctara?
2. X-linked dominant chondrodysplasia punctata: Review of literature and report of a case
3. Conradi-Hünermann-Happle syndrome (CDPX2) and empamil binding protein: Novel mutations, and somatic and gonadal mosaicism
4. 7 - isomerase cause X-linked dominant Conradi-Hünermann syndrome
5. Cholesterol metobolism defect associated with Conradi-Hünermann-Happle syndrome