TY  - GEN
AU  - Bessenyei,Beáta
AU  - Tihanyi,Mariann
AU  - Hartwig,Marianna
AU  - Szakszon,Katalin
AU  - Oláh,Éva
TI  - Variable expressivity of pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mutation
SN  - 1552-4833
PY  - 2015///0710
KW  - Acrocephalosyndactylia
KW  - genetics
KW  - Female
KW  - Genes, Dominant
KW  - Humans
KW  - Hungary
KW  - Mutation, Missense
KW  - Pedigree
KW  - Phenotype
KW  - Receptor, Fibroblast Growth Factor, Type 1
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1002/ajmg.a.36774
ER  -