FGFR2 mutation in a patient with Apert syndrome associated with humeroradial synostosis
Search this article
Description
ABSTRACT Most cases of Apert syndrome are due to S252W or P253R mutations in the fibroblast growth factor receptor 2 (FGFR2) gene. Differences in the effects of S252W and P253R mutations on the clinical features of Apert syndrome have been studied, but little is known about the type of FGFR2 mutation in Apert syndrome with humeroradial synostosis. To study a correlation between the FGFR2 mutations and the clinical complications, we examined the FGFR2 gene in a patient with Apert syndrome associated with humeroradial synostosis, and found that the mutation was S252W. This report suggested that S252W mutation in FGFR2 may cause humeroradial synostosis in Apert syndrome.
Journal
-
- official journal of Congeital Anomalies Research Association of Japan
-
official journal of Congeital Anomalies Research Association of Japan 43 (4), 302-305, 2003
The Japanese Teratology Society
- Tweet
Keywords
Details 詳細情報について
-
- CRID
- 1390570408616252544
-
- NII Article ID
- 110002785614
-
- NII Book ID
- AN10066760
-
- ISSN
- 09143505
- 24331503
- 17414520
- 00372285
-
- NDL BIB ID
- 6899220
-
- Web Site
- http://id.ndl.go.jp/bib/6899220
- https://ndlsearch.ndl.go.jp/books/R000000004-I6899220
- https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1741-4520.2003.tb01017.x
- https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1741-4520.2003.tb01017.x
- https://search.jamas.or.jp/link/ui/2005201136
-
- Text Lang
- en
-
- Data Source
-
- JaLC
- NDL
- Crossref
- CiNii Articles
-
- Abstract License Flag
- Disallowed