%0 Journal Article
%A Inta, Ioana Monica
%A Choukair, Daniela
%A Bender, Sebastian
%A Kneppo, Carolin
%A Knauer-Fischer, Sabine
%A Meyenburg, Kahina
%A Ivandic, Boris
%A Pfister, Stefan
%A Bettendorf, Markus
%T Guanine nucleotide-binding protein α subunit hypofunction in children with short stature and disproportionate shortening of the 4th and 5th metacarpals.
%J Hormone research in paediatrics
%V 81
%N 3
%@ 1663-2826
%C Basel
%I Karger
%M DKFZ-2017-02105
%P 196 - 203
%D 2014
%X GNAS encodes the α subunit of the stimulatory G protein (Gsα). Maternal inherited Gsα mutations cause pseudohypoparathyroidism type Ia (PHP-Ia), associated with shortening of the 4th and 5th metacarpals.Here we investigated the Gsα pathway in short patients with distinct shortening of the 4th and 5th metacarpals.In 571 children with short stature and 4 patients with PHP-Ia metacarpal bone lengths were measured. In identified patients we analysed the Gsα protein function in platelets, performed GNAS sequencing, and epigenetic analysis of four significant differentially methylated regions.In 51 patients (8.9
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:24481334
%R 10.1159/000356928
%U https://inrepo02.dkfz.de/record/125990