%0 Journal Article
%A Simm, Franziska
%A Griesbeck, Anne
%A Choukair, Daniela
%A Weiß, Birgit
%A Paramasivam, Nagarajan
%A Klammt, Jürgen
%A Schlesner, Matthias
%A Wiemann, Stefan
%A Martinez, Cristina
%A Hoffmann, Georg F
%A Pfäffle, Roland W
%A Bettendorf, Markus
%A Rappold, Gudrun A
%T Identification of SLC20A1 and SLC15A4 among other genes as potential risk factors for combined pituitary hormone deficiency.
%J Genetics in medicine
%V 20
%N 7
%@ 1530-0366
%C Baltimore, Md.
%I Lippincott, Williams & Wilkins
%M DKFZ-2018-01337
%P 728 - 736
%D 2018
%X Combined pituitary hormone deficiency (CPHD) is characterized by a malformed or underdeveloped pituitary gland resulting in an impaired pituitary hormone secretion. Several transcription factors have been described in its etiology, but defects in known genes account for only a small proportion of cases.To identify novel genetic causes for congenital hypopituitarism, we performed exome-sequencing studies on 10 patients with CPHD and their unaffected parents. Two candidate genes were sequenced in further 200 patients. Genotype data of known hypopituitary genes are reviewed.We discovered 51 likely damaging variants in 38 genes; 12 of the 51 variants represent de novo events (24
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:29261175
%R 10.1038/gim.2017.165
%U https://inrepo02.dkfz.de/record/136899