TY  - GEN
AU  - Johnston,Jennifer J
AU  - Sanchez-Contreras,Monica Y
AU  - Keppler-Noreuil,Kim M
AU  - Sapp,Julie
AU  - Crenshaw,Molly
AU  - Finch,NiCole A
AU  - Cormier-Daire,Valerie
AU  - Rademakers,Rosa
AU  - Sybert,Virginia P
AU  - Biesecker,Leslie G
TI  - A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome
SN  - 1537-6605
PY  - 2015///1208
KW  - Acro-Osteolysis
KW  - genetics
KW  - DNA, Complementary
KW  - Female
KW  - Genes, Dominant
KW  - HeLa Cells
KW  - Humans
KW  - Limb Deformities, Congenital
KW  - Male
KW  - Mutation, Missense
KW  - Phosphorylation
KW  - Point Mutation
KW  - Progeria
KW  - Receptor, Platelet-Derived Growth Factor beta
KW  - Signal Transduction
KW  - Time Factors
N1  - Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural
UR  - https://doi.org/10.1016/j.ajhg.2015.07.009
ER  -