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Article

Rare Frequency of Mutations in Pituitary Transcription Factor Genes in Combined Pituitary Hormone or Isolated Growth Hormone Deficiencies in Korea.

Yonsei medical journal - 1 May 2017

Choi Jin Ho, Jung Chang Woo, Kang Eungu, Kim Yoon Myung, Heo Sun Hee, Lee Beom Hee, Kim Gu Hwan, Yoo Han Wook

Abstract excerpt

PURPOSE: Congenital hypopituitarism is caused by mutations in pituitary transcription factors involved in the development of the hypothalamic-pituitary axis. Mutation frequencies of genes involved in congenital hypopituitarism are extremely low and vary substantially between ethnicities. This study was undertaken to compare the clinical, endocrinological, and radiological features of patients with an isolated...

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Topics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 28332357
DOI: 10.3349/ymj.2017.58.3.527
PMCID: PMC5368137

Genes

HESX1
LHX3
LHX4
PROP1

Provenance

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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