Abstract
We report a new Japanese family with tricho-rhino-phalangeal syndrome type III (TRPS III) who have a missense mutation (Arg908Gn) of the TRPS1 gene (TRPS1) in affected individuals of the family. This study supports the notion that TRPS III results from missense mutations in exon 6 of TRPS1.
Original language | English |
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Pages (from-to) | 26-29 |
Number of pages | 4 |
Journal | American Journal of Medical Genetics |
Volume | 107 |
Issue number | 1 |
DOIs | |
Publication status | Published - Jan 1 2002 |
Externally published | Yes |
All Science Journal Classification (ASJC) codes
- Genetics
- Genetics(clinical)