Ontology highlight
ABSTRACT:
SUBMITTER: Ikegawa S
PROVIDER: S-EPMC1377637 | biostudies-other | 1998 Dec
REPOSITORIES: biostudies-other
Ikegawa S S Nishimura G G Nagai T T Hasegawa T T Ohashi H H Nakamura Y Y
American journal of human genetics 19981201 6
Spondylometaphyseal dysplasia (SMD) comprises a heterogeneous group of heritable skeletal dysplasias characterized by modifications of the vertebral bodies of the spine and metaphyses of the tubular bones. The genetic etiology of SMD is currently unknown; however, the type X collagen gene (COL10A1) is considered an excellent candidate, for two reasons: first, Schmid metaphyseal chondrodysplasia, a condition known to result from COL10A1 mutations, shows a significant phenotypic overlap with SMD; ...[more]