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 a novel biallelic missense variant in the KIAA0825 underlies postaxial polydactyly type A.

Genomics - 1 Jul 2020

Hayat Amir, Umair Muhammad, Abbas Safdar, Rauf Abdur, Ahmad Farooq, Ullah Shahid, Ahmad Wasim, Khan Bushra

Abstract excerpt

Postaxial polydactyly (PAP) is characterized by development of extra digits, which mostly segregates in autosomal recessive pattern. The underlying genetic cause of recessive non-syndromic PAP type A has been associated with sequence variants in five different genes (ZNF141, IQCE, GLI1, FAM92A, KIAA0825). The present study was aimed to investigate clinical and genetic causes of PAPA in a consanguineous family of...

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to Fingers
Share to Haplotypes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Intracellular Signaling Peptides and Proteins

Share to Mutation, Missense

Share to Polydactyly

Share to Protein Conformation

Source

Identifiers

PMID: 32147526
DOI: 10.1016/j.ygeno.2020.03.006

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of a novel biallelic missense variant in the KIAA0825 underlies postaxial polydactyly type A.PMID 32147526Read ↗

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

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

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

Genetic overview of postaxial polydactyly: Updated classificationSemantic 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 ↗

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

Prenatal Detection of Novel Compound Heterozygous Splice Site Variants of the KIAA0825 Gene in a Fetus with Postaxial Polydactyly Type ASemantic proximity Read ↗

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

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

Molecular characterization of recessively inherited ataxic and neuropathic disorders in consanguineous Pakistani families.Semantic proximity Read ↗

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