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Article

Unique near-complete deletion of GLI2 in a patient with combined pituitary hormone deficiency and post-axial polydactyly.

Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society - 1 Feb 2020

Elizabeth Melitza S M, Verkerk Annemieke J M H, Hokken-Koelega Anita C S, Verlouw Joost A M, Argente Jesús, Pfaeffle Roland, Visser Theo J, Peeters Robin P, De Graaff Laura C G

Abstract excerpt

INTRODUCTION: Combined pituitary hormone deficiency (CPHD) can cause a broad spectrum of health problems, ranging from short stature only, to convulsions or even death. In the majority of patients, the cause is unknown. METHODS: The idex case had unexplained CPHD, pituitary anomalies on MRI and polydactyly. In the patients and her unaffected parents, we performed SNP array analysis and Whole Exome Sequencing,...

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PMID: 31862539
DOI: 10.1016/j.ghir.2019.10.002

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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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