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Article

Extended clinical features associated with novel Glis3 mutation: a case report.

BMC endocrine disorders - 2 Mar 2017

Alghamdi K A, Alsaedi A B, Aljasser A, Altawil A, Kamal Naglaa M

Abstract excerpt

BACKGROUND: Mutations in the GLI-similar 3 (GLIS3) gene encoding the transcription factor GLIS3 are a rare cause of neonatal diabetes and congenital hypothyroidism with 12 reported patients to date. Additional features, previously described, include congenital glaucoma, hepatic fibrosis, polycystic kidneys, developmental delay, facial dysmorphism, osteopenia, sensorineural deafness, choanal atresia,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 28253873
DOI: 10.1186/s12902-017-0160-z
PMCID: PMC5335837

Genes

GLIS3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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