Identification of SLC20A1 and SLC15A4 among other genes as potential risk factors for combined pituitary hormone deficiency

@article{Simm2018IdentificationOS,
  title={Identification of SLC20A1 and SLC15A4 among other genes as potential risk factors for combined pituitary hormone deficiency},
  author={Franziska Simm and Anne Griesbeck and Daniela Choukair and TA BirgitWei\ss and Nagarajan Paramasivam and J{\"u}rgen Klammt and Matthias Schlesner and Stefan Wiemann and C Martinez and Georg Friedrich Hoffmann and Roland W. Pf{\"a}ffle and Markus Bettendorf and Gudrun A Rappold},
  journal={Genetics in Medicine},
  year={2018},
  volume={20},
  pages={728-736}
}
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… CONTINUE READING