Article
G370C mutation in the FGFR3 gene in a Japanese patient with thanatophoric dysplasia.
Endocrine journal - 1 Apr 1998
Katsumata N, Kuno T, Miyazaki S, Mikami S, Nagashima-Miyokawa A, Nimura A, Horikawa R, Tanaka T
Abstract excerpt
Thanatophoric dysplasia (TD) is a sporadic lethal skeletal dysplasia with micromelic shortening of the limbs, relative macrocephaly, platyspondyly and reduced thoracic cavity. It has recently been reported that TD is caused by mutations in the FGFR3 gene. In the present study, we report a missense mutation in the FGFR3 gene in a Japanese patient with TD. The patient was noticed to have typical features of TD type...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.