| Literature DB >> 2114799 |
T Ogata1, N Matsuo, G Nishimura, H Hajikano.
Abstract
We report on a Japanese boy with oto-palato-digital syndrome type II, an X-linked lethal congenital skeletal dysplasia. The clinical, radiological and histological findings indicate that defective intramembranous ossification may be the principal abnormality responsible for the entity.Entities:
Mesh：
Year: 1990 PMID： 2114799 DOI： 10.1002/ajmg.1320360217
Source DB: PubMed Journal: Am J Med Genet ISSN： 0148-7299