๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

MED,COMP, multilayered and NEIN: an overview of multiple epiphyseal dysplasia

โœ Scribed by Ralph S. Lachman; Deborah Krakow; Daniel H. Cohn; David L. Rimoin


Publisher
Springer-Verlag
Year
2004
Tongue
English
Weight
588 KB
Volume
35
Category
Article
ISSN
0301-0449

No coin nor oath required. For personal study only.


๐Ÿ“œ SIMILAR VOLUMES


Novel and recurrent mutations in the C-t
โœ Jason Kennedy; Gail C. Jackson; Faye S. Barker; Seema Nundlall; Jordi Bella; Mic ๐Ÿ“‚ Article ๐Ÿ“… 2005 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 250 KB ๐Ÿ‘ 1 views

Pseudoachondroplasia (PSACH) and some forms of multiple epiphyseal dysplasia (MED) result from mutations in the gene encoding cartilage oligomeric matrix protein (COMP). COMP is a large pentameric glycoprotein found predominantly in the extracellular matrix of cartilage, tendon, and ligament. As a m

Pseudoachondroplasia and multiple epiphy
โœ Gail C. Jackson; Laureane Mittaz-Crettol; Jacqueline A. Taylor; Geert R. Mortier ๐Ÿ“‚ Article ๐Ÿ“… 2011 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 428 KB

Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are relatively common skeletal dysplasias resulting in short-limbed dwarfism, joint pain, and stiffness. PSACH and the largest proportion of autosomal dominant MED (AD-MED) results from mutations in cartilage oligomeric matrix prot