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Functional analysis of a novelRUNX2missense mutation found in a family with cleidocranial dysplasia

✍ Scribed by Cinzia Puppin; Lucia Pellizzari; Dora Fabbro; Federico Fogolari; Gianluca Tell; Alessanda Tessa; Filippo M. Santorelli; Giuseppe Damante

Book ID
106251947
Publisher
Nature Publishing Group
Year
2005
Tongue
English
Weight
301 KB
Volume
50
Category
Article
ISSN
1435-232X

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Novel COL9A3 mutation in a family with multiple epiphyseal dysplasia
✍ Eiji Nakashima; Hiroshi Kitoh; Koichi Maeda; Nobuhiko Haga; Rika Kosaki; Akihiko πŸ“‚ Article πŸ“… 2005 πŸ› John Wiley and Sons 🌐 English βš– 161 KB πŸ‘ 2 views

## Abstract Multiple epiphyseal dysplasia (MED) is a common skeletal dysplasia characterized by mild to moderate short stature, early‐onset of osteoarthritis (OA) mainly in the hip and knee joints, and abnormally small and/or irregular epiphyses. MED is clinically and genetically heterogeneous. Six