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Reduced penetrance in a family with X-linked dominant chondrodysplasia punctata

โœ Scribed by Yorck Hellenbroich; Karl-Heinz Grzeschik; Martin Krapp; Tiantom Jarutat; Christa Lehrmann-Petersen; Karin Buiting; Gabriele Gillessen-Kaesbach


Book ID
116433042
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
416 KB
Volume
50
Category
Article
ISSN
1769-7212

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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