X-linked dominant chondrodysplasia punctata is characterised by resolving irregular punctate calcifications of epiphyses, variable ichthyosis and atrophoderma, short stature, and cataracts. We report on a patient with this syndrome who had transiently abnormal peroxisomal function tests. We review t
β¦ LIBER β¦
X-linked dominant chondrodysplasia punctata: A case report and family studies
β Scribed by Mueller, R. F. ;Crowle, P. M. ;Jones, R. A. K. ;Davison, B. C. C. ;Opitz, John M. ;Reynolds, James F.
- Publisher
- John Wiley and Sons
- Year
- 1985
- Tongue
- English
- Weight
- 422 KB
- Volume
- 20
- Category
- Article
- ISSN
- 0148-7299
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