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Article

Homozygous GLI3 variants observed in three unrelated patients presenting with syndromic polydactyly.

American journal of medical genetics. Part A - 1 Dec 2021

El Mouatani Ahmed, Van Winckel Géraldine, Zaafrane-Khachnaoui Khaoula, Whalen Sandra, Achaiaa Amale, Kaltenbach Sophie, Superti-Furga Andrea, Vekemans Michel, Fodstad Heidi, Giuliano Fabienne, Attie-Bitach Tania

Abstract excerpt

Polydactyly is a hallmark of GLI3 pathogenic variants, with Greig cephalopolysyndactyly syndrome and Pallister-Hall syndrome being the two main associated clinical presentations. Homozygous GLI3 variants are rare instances in the literature, and mendelian dominance is the accepted framework for GLI3-related diseases. Herein, we report three unrelated probands, presenting with polydactyly, and homozygous variants...

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PMID: 34296525
DOI: 10.1002/ajmg.a.62426

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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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