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Article

Truncating and zinc-finger variants in GLI2 are associated with hypopituitarism.

American journal of medical genetics. Part A - 1 Apr 2022

Corder Megan L, Berland Siren, Førsvoll Jostein A, Banerjee Indraneel, Murray Phil, Bratland Eirik, Gokhale David, Houge Gunnar, Douzgou Sofia

Abstract excerpt

Variants in transcription factor GLI2 have been associated with hypopituitarism and structural brain abnormalities, occasionally including holoprosencephaly (HPE). Substantial phenotypic variability and nonpenetrance have been described, posing difficulties in the counseling of affected families. We present three individuals with novel likely pathogenic GLI2 variants, two with truncating and one with a de novo...

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Source

Identifiers

PMID: 34921505
DOI: 10.1002/ajmg.a.62611

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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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