Ontology highlight
ABSTRACT:
SUBMITTER: Holden P
PROVIDER: S-EPMC1378072 | biostudies-other | 1999 Jul
REPOSITORIES: biostudies-other
Holden P P Canty E G EG Mortier G R GR Zabel B B Spranger J J Carr A A Grant M E ME Loughlin J A JA Briggs M D MD
American journal of human genetics 19990701 1
Multiple epiphyseal dysplasia (MED) is a genetically heterogeneous disorder with marked clinical and radiographic variability. Traditionally, the mild "Ribbing" and severe "Fairbank" types have been used to define a broad phenotypic spectrum. Mutations in the gene encoding cartilage oligomeric-matrix protein have been shown to result in several types of MED, whereas mutations in the gene encoding the alpha2 chain of type IX collagen (COL9A2) have so far been found only in two families with the F ...[more]