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Dominant sex-linked inherited chondrodysplasia punctata: a distinct type of chondrodysplasia punctata

โœ Scribed by H. Manzke; E. Christophers; H.-R. Wiedemann


Book ID
119838953
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
844 KB
Volume
17
Category
Article
ISSN
0009-9163

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X-linked dominant chondrodysplasia punct
โœ Wilson, Callum J.; Aftimos, Salim ๐Ÿ“‚ Article ๐Ÿ“… 1998 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 5 KB ๐Ÿ‘ 2 views

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