Molecular Analysis of a Case of Thanatophoric Dysplasia Reveals Two de novo FGFR3 Missense Mutations located in cis
Objectives: Thanatophoric dysplasia (TD) is the most common form of lethal skeletal dysplasia. It is primarily an autosomal dominant disorder and is characterised by macrocephaly, a narrow thorax, short ribs, brachydactyly, and hypotonia. In addition to these core phenotypic features, TD type I invo...
| Main Authors: | , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Sultan Qaboos University
2013-02-01
|
| Series: | Sultan Qaboos University Medical Journal |
| Subjects: | |
| Online Access: | https://journals.squ.edu.om/index.php/squmj/article/view/1746 |