TY  - GEN
AU  - Fenwick,Aimee L
AU  - Goos,Jacqueline A C
AU  - Rankin,Julia
AU  - Lord,Helen
AU  - Lester,Tracy
AU  - Hoogeboom,A Jeannette M
AU  - van den Ouweland,Ans M W
AU  - Wall,Steven A
AU  - Mathijssen,Irene M J
AU  - Wilkie,Andrew O M
TI  - Apparently synonymous substitutions in FGFR2 affect splicing and result in mild Crouzon syndrome
SN  - 1471-2350
PY  - 2014///1104
KW  - Amino Acid Substitution
KW  - Craniofacial Dysostosis
KW  - genetics
KW  - Craniosynostoses
KW  - Exons
KW  - Female
KW  - Heterozygote
KW  - Humans
KW  - Male
KW  - Mutation, Missense
KW  - Pedigree
KW  - RNA Splicing
KW  - Receptor, Fibroblast Growth Factor, Type 2
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1186/s12881-014-0095-4
ER  -