Contribution of LHX4 Mutations to Pituitary Deficits in a Cohort of 417 Unrelated Patients.

doi:10.1210/jc.2016-3158

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Article

Contribution of LHX4 Mutations to Pituitary Deficits in a Cohort of 417 Unrelated Patients.

The Journal of clinical endocrinology and metabolism - 1 Jan 2017

Cohen Enzo, Maghnie Mohamad, Collot Nathalie, Leger Juliane, Dastot Florence, Polak Michel, Rose Sophie, Touraine Philippe, Duquesnoy Philippe, Tauber Maïté, Copin Bruno, Bertrand Anne-Marie, Brioude Frederic, Larizza Daniela, Edouard Thomas, González Briceño Laura, Netchine Irène, Oliver-Petit Isabelle, Sobrier Marie-Laure, Amselem Serge, Legendre Marie

Abstract excerpt

Context: LHX4 encodes a LIM-homeodomain transcription factor that is implicated in early pituitary development. In humans, only 13 heterozygous LHX4 mutations have been associated with congenital hypopituitarism. Objective: The aims of this study were to evaluate the prevalence of LHX4 mutations in patients with hypopituitarism, to define the associated phenotypes, and to characterize the functional impact of the...

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Identifiers

PMID: 27820671
DOI: 10.1210/jc.2016-3158

Genes

LHX4
LHX3
LIM2

Variants

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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