TY  - GEN
AU  - Müller,Eva
AU  - Dunstheimer,Desiree
AU  - Klammt,Jürgen
AU  - Friebe,Daniela
AU  - Kiess,Wieland
AU  - Kratzsch,Jürgen
AU  - Kruis,Tassilo
AU  - Laue,Sandy
AU  - Pfäffle,Roland
AU  - Wallborn,Tillmann
AU  - Heidemann,Peter H
TI  - Clinical and functional characterization of a patient carrying a compound heterozygous pericentrin mutation and a heterozygous IGF1 receptor mutation
SN  - 1932-6203
PY  - 2012///1022
KW  - Adolescent
KW  - Antigens
KW  - genetics
KW  - Bone and Bones
KW  - diagnostic imaging
KW  - Child
KW  - Child, Preschool
KW  - Extracellular Signal-Regulated MAP Kinases
KW  - metabolism
KW  - Female
KW  - Heterozygote
KW  - Humans
KW  - Infant
KW  - Infant, Newborn
KW  - Mitogen-Activated Protein Kinases
KW  - Mutation
KW  - Neuroimaging
KW  - Phenotype
KW  - Phosphorylation
KW  - Proto-Oncogene Proteins c-akt
KW  - Radiography
KW  - Receptor, IGF Type 1
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1371/journal.pone.0038220
ER  -