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Article

Clues for Polygenic Inheritance of Pituitary Stalk Interruption Syndrome From Exome Sequencing in 20 Patients.

The Journal of clinical endocrinology and metabolism - 1 Feb 2018

Zwaveling-Soonawala Nitash, Alders Marielle, Jongejan Aldo, Kovacic Lidija, Duijkers Floor A, Maas Saskia M, Fliers Eric, van Trotsenburg A S Paul, Hennekam Raoul C

Abstract excerpt

Context: Pituitary stalk interruption syndrome (PSIS) consists of a small/absent anterior pituitary lobe, an interrupted/absent pituitary stalk, and an ectopic posterior pituitary lobe. Mendelian forms of PSIS are detected infrequently (<5%), and a polygenic etiology has been suggested. GLI2 variants have been reported at a relatively high frequency in PSIS. Objective: To provide further evidence for a...

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Topics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29165578
DOI: 10.1210/jc.2017-01660

Genes

GLI2
DCHS1
KIF14
ROBO2

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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