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Novel and recurrentEBP mutations in X-linked dominant chondrodysplasia punctata

โœ Scribed by Ikegawa, Shiro ;Ohashi, Hirofumi ;Ogata, Tsutomu ;Honda, Akira ;Tsukahara, Masato ;Kubo, Toshihide ;Kimizuka, Mamori ;Shimode, Masanori ;Hasegawa, Tomonobu ;Nishimura, Gen ;Nakamura, Yusuke


Book ID
102662907
Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
698 KB
Volume
94
Category
Article
ISSN
0148-7299

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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