𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Multiple epiphyseal dysplasia tarda : A family with autosomal recessive inheritance

✍ Scribed by Ivanhoe Gamboa; Rubén Lisker

Book ID
119838073
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
338 KB
Volume
6
Category
Article
ISSN
0009-9163

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Novel COL9A3 mutation in a family with m
Novel COL9A3 mutation in a family with multiple epiphyseal dysplasia
✍ Eiji Nakashima; Hiroshi Kitoh; Koichi Maeda; Nobuhiko Haga; Rika Kosaki; Akihiko 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 161 KB 👁 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

A large family with multiple epiphyseal
A large family with multiple epiphyseal dysplasia linked to COL9A2 gene
✍ van Mourik, Jan B.A.; Hamel, Ben C.J.; Mariman, Edwin C.M. 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 82 KB 👁 2 views

We describe a large family, including 54 affected individuals, with multiple epiphyseal dysplasia (MED) with involvement of the peripheral joints only. In this family, a mutation in the COL9A2 gene was detected. Every affected person has involvement of the knee joints. Other involved joints are the