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Article

Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency.

Nature genetics - 1 Jun 2000

Netchine I, Sobrier M L, Krude H, Schnabel D, Maghnie M, Marcos E, Duriez B, Cacheux V, Moers A v, Goossens M, Grüters A, Amselem S

Abstract excerpt

Combined pituitary hormone deficiency (CPHD) has been linked with rare abnormalities in genes encoding transcription factors necessary for pituitary development. We have isolated LHX3, a gene involved in a new syndrome, using a candidate-gene approach developed on the basis of documented pituitar...

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Share to Abnormalities, Multiple
Share to Cervical Vertebrae
Share to Chromosomes, Human, Pair 9

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10835633
DOI: 10.1038/76041

Genes

LHX3
LIM2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-10835633-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency.PMID 10835633Read ↗

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