β Scribed by Graham, John M.; Braddock, Stephen R.; Mortier, Geert R.; Lachman, Ralph; Van Dop, Cornelis; Jabs, Ethylin Wang
No coin nor oath required. For personal study only.
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 definition of a recognizable syndrome, through analysis of subtle clinical findings in families who were previously thought to have a variety of other craniosynostosis syndromes. Previous diagnoses in some of these families have included Jackson-Weiss, Saethre-Chotzen, and Pfeiffer syndromes, as well as Adelaide-type craniosynostosis and brachydactylycraniosynostosis syndrome [Ade `s et al.
π SIMILAR VOLUMES
Fig. 1. Front (A) and profile (B) of the phenotypically normal individual with the FGFR3 Pro250Arg mutation.
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
The term Baller-Gerold syndrome was coined by Cohen [1979: Birth Defects 15(5B): 13-63] to designate the phenotype of craniosynostosis and radial aplasia. It is thought to be a rare autosomal recessive condition, which, in some patients, presents with additional abnormalities, such as polymicrogyria
Claiming a human is forbidden, but that will not keep her from me. A beast takes his mate. For centuries we have hidden our feral nature, our brute strength, and our carnal instincts. Now, when the savagery of one of our kind risks exposing us all, we should be even more circumspect. But this hu
**Claiming a human is forbidden, but that will not keep her from me. A beast takes his mate.** For centuries we have hidden our feral nature, our brute strength, and our carnal instincts. Now, when the savagery of one of our kind risks exposing us all, we should be even more circumspect. B