TY  - JOUR
AU  - Simm, Franziska
AU  - Griesbeck, Anne
AU  - Choukair, Daniela
AU  - Weiß, Birgit
AU  - Paramasivam, Nagarajan
AU  - Klammt, Jürgen
AU  - Schlesner, Matthias
AU  - Wiemann, Stefan
AU  - Martinez, Cristina
AU  - Hoffmann, Georg F
AU  - Pfäffle, Roland W
AU  - Bettendorf, Markus
AU  - Rappold, Gudrun A
TI  - Identification of SLC20A1 and SLC15A4 among other genes as potential risk factors for combined pituitary hormone deficiency.
JO  - Genetics in medicine
VL  - 20
IS  - 7
SN  - 1530-0366
CY  - Baltimore, Md.
PB  - Lippincott, Williams & Wilkins
M1  - DKFZ-2018-01337
SP  - 728 - 736
PY  - 2018
AB  - 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
LB  - PUB:(DE-HGF)16
C6  - pmid:29261175
DO  - DOI:10.1038/gim.2017.165
UR  - https://inrepo02.dkfz.de/record/136899
ER  -