Discover Community Create You

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

Identification of GLI1 and KIAA0825 Variants in Two Families with Postaxial Polydactyly.

Genes - 5 Apr 2023

Ahmad Safeer, Ali Muhammad Zeeshan, Muzammal Muhammad, Khan Amjad Ullah, Ikram Muhammad, Muurinen Mari, Hussain Shabir, Loid Petra, Khan Muzammil Ahmad, Mäkitie Outi

Abstract excerpt

Polydactyly is a rare autosomal dominant or recessive appendicular patterning defect of the hands and feet, phenotypically characterized by the duplication of digits. Postaxial polydactyly (PAP) is the most common form and includes two main types: PAP type A (PAPA) and PAP type B (PAPB). Type A involves a well-established extra digit articulated with the fifth or sixth metacarpal, while type B presents a...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Fingers
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Polydactyly

Share to Zinc Finger Protein GLI1

Source

Open in PubMed Open full text

Identifiers

PMID: 37107627
DOI: 10.3390/genes14040869
PMCID: PMC10137575

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of GLI1 and KIAA0825 Variants in Two Families with Postaxial Polydactyly.PMID 37107627Read ↗

Identification of a novel biallelic missense variant in the KIAA0825 underlies 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 ↗

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

Genetic overview of postaxial polydactyly: Updated classificationSemantic proximity Read ↗

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

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

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

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

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

GLI3 ‐related polydactyly: a reviewSemantic proximity Read ↗

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