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Maternal uniparental disomy 7 – review and further delineation of the phenotype

✍ Scribed by D. Kotzot; D. Balmer; A. Baumer; K. Chrzanowska; B. C. J. Hamel; H. Ilyina; M. Krajewska-Walasek; I. W. Lurie; B. J. Otten; E. Schoenle; G. Tariverdian; A. Schinzel


Publisher
Springer
Year
2000
Tongue
English
Weight
410 KB
Volume
159
Category
Article
ISSN
0340-6997

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Yunis–Varon syndrome: Further delineatio
✍ Lina Basel-Vanagaite; Liora Kornreich; Ofer Schiller; Joanne Yacobovich; Paul Me 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 108 KB 👁 3 views

## Abstract Yunis–Varon syndrome (YVS) is a rare autosomal recessive condition characterized by limb defects, ossification defects, generalized hypotrichosis and, frequently, a severe neonatal course. The molecular basis is unknown. We report on a newborn infant with previously undescribed findings