Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb.

European journal of human genetics : EJHG - 1 Aug 2017

Umair Muhammad, Shah Khadim, Alhaddad Bader, Haack Tobias B, Graf Elisabeth, Strom Tim M, Meitinger Thomas, Ahmad Wasim

Abstract excerpt

Polydactyly is characterized by an extra supernumerary digit/toe with or without bony element. To date variants in four genes GLI3, ZNF141, MIPOL1 and PITX1 have been implicated in developing non-syndromic form of polydactyly. The present study involved characterization of large consanguineous family of Pakistani origin segregating post-axial polydactyly type A, restricted to lower limb, in autosomal recessive...

Topics

Join the communities discussing this publication.

Codon, Terminator
Exome
Frameshift Mutation
HeLa Cells
Homozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Intracellular Signaling Peptides and Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 28488682
DOI: 10.1038/ejhg.2017.83
PMCID: PMC5567151

Genes

IQCE
GLI3
MIPOL1
PITX1

Variants

Provenance

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

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb.PMID 28488682Read ↗

Whole exome sequencing identified a novel zinc-finger gene ZNF141 associated with autosomal recessive postaxial polydactyly type A.Semantic proximity Read ↗

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

Complex postaxial polydactyly types A and B with camptodactyly, hypoplastic third toe, zygodactyly and other digit anomalies caused by a novel GLI3 mutation.Semantic proximity Read ↗

Identification of a novel biallelic missense variant in the KIAA0825 underlies postaxial polydactyly type A.Semantic proximity Read ↗

Advances in the molecular genetics of non-syndromic polydactyly.Semantic proximity Read ↗

Exome sequencing reveals a novel nonsense mutation of GLI3 in a Chinese family with 'non-syndromic' pre-axial polydactyly.Semantic proximity Read ↗

A novel homozygous FAM92A gene (CIBAR1) variant further confirms its association with non-syndromic postaxial polydactyly type A9 (PAPA9).Semantic proximity Read ↗

Identification of truncated variants in GLI family zinc finger 3 (GLI3) associated with polydactylySemantic proximity Read ↗

Identification of GLI1 and KIAA0825 Variants in Two Families with Postaxial Polydactyly.Semantic proximity Read ↗

A novel variant of GLI3, p.Asp1514Thrfs*5, is identified in a Chinese family affected by polydactyly.Semantic proximity Read ↗

Identification of truncated variants in GLI family zinc finger 3 (GLI3) associated with polydactyly.Semantic proximity Read ↗

Genetic overview of postaxial polydactyly: Updated classificationSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.