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Article

Genetic causes of isolated and combined pituitary hormone deficiency.

Best practice & research. Clinical endocrinology & metabolism - 1 Dec 2016

Giordano Mara

Abstract excerpt

Research over the last 20 years has led to the elucidation of the genetic aetiologies of Isolated Growth Hormone Deficiency (IGHD) and Combined Pituitary Hormone Deficiency (CPHD). The pituitary plays a central role in growth regulation, coordinating the multitude of central and peripheral signals to maintain the body's internal balance. Naturally occurring mutation in humans and in mice have demonstrated a role...

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Source

Identifiers

PMID: 27974184
DOI: 10.1016/j.beem.2016.09.005

Genes

GHRHR
GLI2
HESX1
LHX3
LHX4
PROP1
SOX3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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