Article
Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome.
Nature genetics - 1 Feb 1995
Wilkie A O, Slaney S F, Oldridge M, Poole M D, Ashworth G J, Hockley A D, Hayward R D, David D J, Pulleyn L J, Rutland P
Abstract excerpt
Apert syndrome is a distinctive human malformation comprising craniosynostosis and severe syndactyly of the hands and feet. We have identified specific missense substitutions involving adjacent amino acids (Ser252Trp and Pro253Arg) in the linker between the second and third extracellular immunogl...
Topics
- Acrocephalosyndactylia
- Alleles
- Amino Acid Sequence
- Base Sequence
- Craniofacial Dysostosis
- DNA, Complementary
- Exons
- Female
- Genetic Markers
- Genotype
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Polymorphism, Single-Stranded Conformational