Recently, a unique Pro250Arg point mutation in fibroblast growth factor receptor 3 (FGFR3) was reported in 61 individuals with coronal craniosynostosis from 20 unrelated families [Muenke et al. (1997): Am J Hum Genet 60:555-564]. The discovery of this apparently common mutation has resulted in the d
No association betweenDFNA6 and Pro250Arg mutation inFGFR3
β Scribed by Bespalova, Irina N.; Burmeister, Margit; Lesperance, Marci M.
- Publisher
- John Wiley and Sons
- Year
- 1999
- Tongue
- English
- Weight
- 3 KB
- Volume
- 88
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19991015)88:5<451::aid-ajmg1>3.0.co;2-4
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
Dominant mutations in three fibroblast growth factor receptor genes (FGFRs1-3) cause Crouzon, Jackson-Weiss, Pfeiffer, and Apert syndromes. In the present study, 50 Brazilian patients with these four syndromes (27 Apert, 17 Crouzon, 5 Pfeiffer, and 1 Jackson-Weiss patients) were screened for mutatio
Fig. 1. Front (A) and profile (B) of the phenotypically normal individual with the FGFR3 Pro250Arg mutation.
The Antley-Bixler syndrome (ABS) is a rare syndrome with synostosis of cranial sutures and elbow joints as minimal diagnostic criteria. The inheritance has been suggested to be autosomal recessive based on two families with sib recurrence with both sexes being affected, and two cases born to consang
Collin Ross, jefe de una troupe de espΓas, llama a Greg Flamm, para asignarle una nueva misiΓ³n, que Greg acepta a regaΓ±adientes, para que rescate a Susan Ganges de una poderosa organizaciΓ³n delictiva, de la que forma parte el mismo padre de la joven. VersiΓ³n : 1.0 Autores : Ivor Wilson EPG Id