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Article

GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum?

American journal of medical genetics. Part A - 1 Dec 2006

Rahimov Fedik, Ribeiro Lucilene Arilho, de Miranda Eziquiel, Richieri-Costa Antonio, Murray Jeffrey C

Abstract excerpt

We report four patients with GLI2 mutations together with their associated phenotypes: (1) holoprosencephaly-like phenotype, (2) anophthalmia, branchial arch anomalies, and CNS abnormalities, (3) heminasal aplasia and orbital anomalies, and (4) lobar holoprosencephaly. This diversity of phenotype...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17096318
DOI: 10.1002/ajmg.a.31370

Genes

GLI2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17096318-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum?PMID 17096318Read ↗

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Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations.Semantic proximity Read ↗

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