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Constitutional de novo t(1;22)(p22;q11.2) and ependymoma

✍ Scribed by Jonathan P. Park; Sara Chaffee; Walter W. Noll; C.Harker Rhodes


Book ID
113253638
Publisher
Elsevier Science
Year
1996
Tongue
English
Weight
323 KB
Volume
86
Category
Article
ISSN
0165-4608

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Pseudoachondroplasia with de novo deleti
✍ Ikegawa, Shiro; Ohashi, Hirofumi; Hosoda, Fumie; Fukushima, Yoshimitsu; Ohki, Mi πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 15 KB πŸ‘ 2 views

Pseudoachondroplasia (PSACH) is a relatively common osteochondrodysplasia characterized clinically by short-limbed short stature with normal face, and radiographically by platyspondyly and dysplasias of epiphyses and metaphyses of the tubular bones. Recently, mutation of cartilage oligomeric matrix