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Article

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

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2018

Simm Franziska, Griesbeck Anne, Choukair Daniela, Weiß Birgit, Paramasivam Nagarajan, Klammt Jürgen, Schlesner Matthias, Wiemann Stefan, Martinez Cristina, Hoffmann Georg F, Pfäffle Roland W, Bettendorf Markus, Rappold Gudrun A

Abstract excerpt

PURPOSE: 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. METHODS: To identify novel genetic causes for congenital hypopituitarism, we performed...

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Identifiers

PMID: 29261175
DOI: 10.1038/gim.2017.165

Genes

GLI2
LHX3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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