Clinical variation in X-linked dominant chondrodysplasia punctata (X-linked dominant ichthyosis)

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Bibliographic Details
Published in:	British journal of dermatology (1951) Vol. 154; no. 4; pp. 766 - 769
Main Authors:	Feldmeyer, L., Mevorah, B., Grzeschik, K.H., Huber, M., Hohl, D.
Format:	Journal Article
Language:	English
Published:	Oxford, UK Blackwell Publishing Ltd 01-04-2006 Blackwell Oxford University Press
Subjects:	Adult Base Sequence Biological and medical sciences Chondrodysplasia Punctata - genetics Chondrodysplasia Punctata - pathology Conradi-Hünermann-Happle syndrome Dermatology Diseases of the osteoarticular system Dyskeratosis EBP mutation Female Frameshift Mutation Humans Ichthyosis, X-Linked - genetics Ichthyosis, X-Linked - pathology Infant, Newborn Malformations and congenital and or hereditary diseases involving bones. Joint deformations Medical sciences Steroid Isomerases - genetics X-linked dominant chondrodysplasia punctata X-linked dominant ichthyosis Human Dyskeratosis Skin disease Conradi-Hünermann-Happle syndrome Chondrodysplasia punctata Dermatology Hyperkeratosis Diseases of the osteoarticular system EBP mutation Metabolic diseases Enzymopathy Genetic disease Ichthyosis Case study X-linked dominant chondrodysplasia punctata Newborn Peroxisomal disorders X-linked dominant ichthyois Mutation Osteochondrodysplasia
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Bibliography:	istex:6346E04EBFF75DAC132E97AA2458D059B4CFC95A ark:/67375/WNG-MRH1PWB4-M ArticleID:BJD7137 Conflicts of interest: None declared. ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3
ISSN:	0007-0963 1365-2133
DOI:	10.1111/j.1365-2133.2006.07137.x