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Article

A novel homozygous variant in the GLI1 underlies postaxial polydactyly in a large consanguineous family with intra familial variable phenotypes.

European journal of medical genetics - 1 Oct 2022

Bakar Abu, Ullah Asmat, Bibi Nousheen, Khan Hammal, Rahman Ateeq Ur, Ahmad Wasim, Khan Bushra

Abstract excerpt

Polydactyly is a human inherited disorder caused by to anomalies in the genes involved in autopod development. The disorder segregates in both autosomal recessive and autosomal dominant form. Up till now, eleven genes causing non-syndromic polydactyly, have been identified. This includes ZNF141, GLI3, ZRS in LMBR1, MIPOL1, PITX1, IQCE, GLI1, FMA92A1, KIAA0825, STKLD1, and DACH1. In the present study, we have...

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Consanguinity
Fingers
Pedigree
Phenotype
Polydactyly

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Zinc Finger Protein GLI1

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PMID: 36067927
DOI: 10.1016/j.ejmg.2022.104599

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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A novel homozygous variant in the GLI1 underlies postaxial polydactyly in a large consanguineous family with intra familial variable phenotypes.PMID 36067927Read ↗

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