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

Clinical phenotype associated with homozygosity for a HOXD13 7-residue polyalanine tract expansion.

European journal of medical genetics - 1 Jan 2000

Horsnell Katherine, Ali Manir, Malik Saghira, Wilson Louise, Hall Christine, Debeer Philippe, Crow Yanick

Abstract excerpt

Synpolydactyly (SPD) is an autosomal dominant malformation of the distal limbs caused by mutations in the homeobox gene HOXD13 located on chromosome 2q31. We detail the clinical findings in a consanguineous Pakistani family segregating a HOXD13 7-residue polyalanine tract expansion. Three members...

Read the complete abstract on PubMed

Topics

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

Share to Consanguinity
Share to DNA Repeat Expansion
Share to Fingers

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homeodomain Proteins

Share to Pakistan

Share to Peptides

Share to Syndactyly

Source

Identifiers

PMID: 16497573
DOI: 10.1016/j.ejmg.2006.01.004

Genes

HOXD13

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Prepared record publication-16497573-2026-09-05.1. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical phenotype associated with homozygosity for a HOXD13 7-residue polyalanine tract expansion.PMID 16497573Read ↗

Polyalanine repeat expansion mutation of the HOXD13 gene in a Chinese family with unusual clinical manifestations of synpolydactyly.Semantic proximity Read ↗

Synpolydactyly and HOXD13 polyalanine repeat: addition of 2 alanine residues is without clinical consequences.Semantic proximity Read ↗

Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tractSemantic proximity Read ↗

Novel mutations of the HOXD13 gene in hand and foot malformations.Semantic proximity Read ↗

Joining the fingers: a HOXD13 Story.Semantic proximity Read ↗

Deletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families.Semantic proximity Read ↗

[HOXD13 polyalanine tract expansion in synpolydactyly: mutation detection and prenatal diagnosis in a large Chinese family].Semantic proximity Read ↗

A new spontaneous mouse mutation of Hoxd13 with a polyalanine expansion and phenotype similar to human synpolydactyly.Semantic proximity Read ↗

A heterozygous duplication variant of the HOXD13 gene caused synpolydactyly type 1 with variable expressivity in a Chinese family.Semantic proximity Read ↗

Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13.Semantic proximity Read ↗

A Review of the Phenotype of Synpolydactyly Type 1 in Homozygous Patients: Defining the Relatively Long and Medially Deviated Big Toe with/without Cupping of the Forefoot as a Pathognomonic Feature in the Phenotype.Semantic proximity Read ↗

Limb skeletal malformations - what the HOX is going on?Semantic proximity Read ↗

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