Citation
Rutland, P, et al. "Identical Mutations in the FGFR2 Gene Cause Both Pfeiffer and Crouzon Syndrome Phenotypes." Nature Genetics, vol. 9, no. 2, 1995, pp. 173-6.
Rutland P, Pulleyn LJ, Reardon W, et al. Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. Nat Genet. 1995;9(2):173-6.
Rutland, P., Pulleyn, L. J., Reardon, W., Baraitser, M., Hayward, R., Jones, B., Malcolm, S., Winter, R. M., Oldridge, M., & Slaney, S. F. (1995). Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. Nature Genetics, 9(2), 173-6.
Rutland P, et al. Identical Mutations in the FGFR2 Gene Cause Both Pfeiffer and Crouzon Syndrome Phenotypes. Nat Genet. 1995;9(2):173-6. PubMed PMID: 7719345.
TY - JOUR
T1 - Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes.
A1 - Rutland,P,
AU - Pulleyn,L J,
AU - Reardon,W,
AU - Baraitser,M,
AU - Hayward,R,
AU - Jones,B,
AU - Malcolm,S,
AU - Winter,R M,
AU - Oldridge,M,
AU - Slaney,S F,
PY - 1995/2/1/pubmed
PY - 1995/2/1/medline
PY - 1995/2/1/entrez
SP - 173
EP - 6
JF - Nature genetics
JO - Nat Genet
VL - 9
IS - 2
N2 - Mutations in the fibroblast growth factor receptor 2 (FGFR2) gene have been identified in Crouzon syndrome, an autosomal dominant condition causing premature fusion of the cranial sutures (craniosynostosis). A mutation in FGFR1 has been established in several families with Pfeiffer syndrome, where craniosynostosis is associated with specific digital abnormalities. We now report point mutations in FGFR2 in seven sporadic Pfeiffer syndrome patients. Six of the seven Pfeiffer syndrome patients share two missense mutations, which have also been reported in Crouzon syndrome. The Crouzon and Pfeiffer phenotypes usually breed true within families and the finding of identical mutations in unrelated individuals giving different phenotypes is a highly unexpected observation.
SN - 1061-4036
UR - https://www.unboundmedicine.com/medline/citation/7719345/Identical_mutations_in_the_FGFR2_gene_cause_both_Pfeiffer_and_Crouzon_syndrome_phenotypes_
L2 - https://doi.org/10.1038/ng0295-173
DB - PRIME
DP - Unbound Medicine
ER -