TY  - GEN
AU  - Abbasi,Farzaneh
AU  - Ghafouri-Fard,Soudeh
AU  - Javaheri,Mona
AU  - Dideban,Abdullah
AU  - Ebrahimi,Ayoub
AU  - Ebrahim-Habibi,Azadeh
TI  - A new missense mutation in FGF23 gene in a male with hyperostosis-hyperphosphatemia syndrome (HHS)
SN  - 1879-0038
PY  - 2014///0623
KW  - Amino Acid Substitution
KW  - Child, Preschool
KW  - Computer Simulation
KW  - Fibroblast Growth Factor-23
KW  - Fibroblast Growth Factors
KW  - chemistry
KW  - Homozygote
KW  - Humans
KW  - Hyperostosis
KW  - genetics
KW  - Hyperphosphatemia
KW  - Male
KW  - Mutation, Missense
KW  - N-Acetylgalactosaminyltransferases
KW  - Protein Conformation
KW  - Polypeptide N-acetylgalactosaminyltransferase
N1  - Publication Type: Case Reports; Letter
UR  - https://doi.org/10.1016/j.gene.2014.03.052
ER  -