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Article

Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes.

Journal of medical genetics - 1 Jun 2021

Baas Martijn, Burger Elise Bette, van den Ouweland Ans Mw, Hovius Steven Er, de Klein Annelies, van Nieuwenhoven Christianne A, Galjaard Robert Jan H

Abstract excerpt

INTRODUCTION: Pathogenic DNA variants in the GLI-Kruppel family member 3 (GLI3) gene are known to cause multiple syndromes: for example, Greig syndrome, preaxial polydactyly-type 4 (PPD4) and Pallister-Hall syndrome. Out of these, Pallister-Hall is a different entity, but the distinction between Greig syndrome and PPD4 is less evident. Using latent class analysis (LCA), our study aimed to investigate the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Limb Deformities, Congenital

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Share to Zinc Finger Protein Gli3

Source

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Identifiers

PMID: 32591344
DOI: 10.1136/jmedgenet-2020-106948
PMCID: PMC8142428

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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