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Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect

✍ Scribed by Winterpacht, Andreas; Hilbert, Matthias; Schwarze, Ulrike; Mundlos, Stefan; Spranger, Jürgen; Zabel, Bernhard U.


Book ID
109915654
Publisher
Nature Publishing Group
Year
1993
Tongue
English
Weight
410 KB
Volume
3
Category
Article
ISSN
1061-4036

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A specific collagen type II gene (COL2A1
✍ Zabel, Bernhard; Hilbert, Katja; Stöß, Hartmut; Superti-Furga, Andrea; Spranger, 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 64 KB

We report on a patient with a skeletal dysplasia characterized by short stature, spondylo-epiphyseal involvement, and brachydactyly E-like changes. This condition has been described as spondyloperiph-era1 dysplasia and the few published cases suggest autosomal dominant inheritance with considerable