A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome.

Johnston, Jennifer J

A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome. [electronic resource] - American journal of human genetics Sep 2015 - 465-74 p. digital

Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural

1537-6605

10.1016/j.ajhg.2015.07.009 doi


Acro-Osteolysis--genetics
DNA, Complementary--genetics
Female
Genes, Dominant--genetics
HeLa Cells
Humans
Limb Deformities, Congenital--genetics
Male
Mutation, Missense--genetics
Phosphorylation
Point Mutation--genetics
Progeria--genetics
Receptor, Platelet-Derived Growth Factor beta--genetics
Signal Transduction--genetics
Time Factors