Clinical and functional characterization of a patient carrying a compound heterozygous pericentrin mutation and a heterozygous IGF1 receptor mutation.

by Eva Müller, Desiree Dunstheimer, Jürgen Klammt, Daniela Friebe, Wieland Kiess, Jürgen Kratzsch, Tassilo Kruis, Sandy Laue, Roland Pfäffle, Tillmann Wallborn, Peter H Heidemann
Published 2012-01-01