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Usefulness of Histopathologic Examination of Thick Scales in the Diagnosis of X-Linked Dominant Chondrodysplasia Punctata (Happle)

✍ Scribed by Makoto Yanagihara; Keiichi Ueda; Naomi Asano; Takeshi Ozawa; Akemi Nakatani; Michiyo Hirose


Book ID
115309025
Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
981 KB
Volume
13
Category
Article
ISSN
0736-8046

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Exclusion mapping of the X-linked domina
✍ Heiko Traupe; Dietmar Müller; David Atherton; D. Chester Kalter; Frans P. M. Cre 📂 Article 📅 1992 🏛 Springer 🌐 English ⚖ 784 KB

Homology with the mouse bare patches mutant suggests that the gene for the X-linked dominant chondrodysplasia punctata/ichthyosis/cataract/short stature syndrome (Happle syndrome) is located in the human Xq28 region. To test this hypothesis, we performed a linkage study in three families comprising