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A patient defines the interstitial 1q deletion syndrome characterized by antithrombin III deficiency

✍ Scribed by Pallotta, Rosanna ;Dalpr�, Leda ;Miozzo, Monica ;Ehresmann, Tamara ;Fusilli, Paola


Book ID
101442814
Publisher
John Wiley and Sons
Year
2001
Tongue
English
Weight
132 KB
Volume
104
Category
Article
ISSN
0148-7299

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Interstitial deletion of chromosome 1q [
✍ Takano, Takako; Yamanouchi, Yasuko; Mori, Yosuke; Kudo, Satoshi; Nakayama, Toyoa 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 221 KB 👁 1 views

We report on a 12-month-old Japanese boy with an interstitial deletion of the long-arm of chromosome 1 and meningomyelocele, hydrocephalus, anal atresia, atrial septal defect, left renal agenesis, bilateral cryptorchidism, talipes equinovarus, low birth weight, growth/developmental retardation, and