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

Deletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families.

American journal of human genetics - 1 Oct 1998

Goodman F, Giovannucci-Uzielli M L, Hall C, Reardon W, Winter R, Scambler P

Abstract excerpt

Synpolydactyly (SPD) is a dominantly inherited congenital limb malformation consisting of 3/4 syndactyly in the hands and 4/5 syndactyly in the feet, with digit duplication in the syndactylous web. The condition recently has been found to result from different-sized expansions of an amino-terminal polyalanine tract in HOXD13. We report a novel type of mutation in HOXD13, associated in some cases with features of...

Read the complete abstract on PubMed

Topics

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

Share to Molecular Sequence Data
Share to Fingers
Share to Heterozygote

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Homeodomain Proteins

Share to Mutation

Share to Pedigree

Share to Sequence Deletion

Share to Transcription Factors

Source

Open in PubMed Open full text

Identifiers

PMID: 9758628
DOI: 10.1086/302070
PMCID: PMC1377502

Genes

HOXD13

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Deletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families.PMID 9758628Read ↗

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

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

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

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

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

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

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

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

An N-terminal G11A mutation in HOXD13 causes synpolydactyly and interferes with Gli3R function during limb pre-patterning.Semantic proximity Read ↗

A novel mutation outside homeodomain of HOXD13 causes synpolydactyly in a Chinese family.Semantic proximity Read ↗

Synpolydactyly: clinical and molecular advances.Semantic proximity Read ↗

The mouse Hoxd13(spdh) mutation, a polyalanine expansion similar to human type II synpolydactyly (SPD), disrupts the function but not the expression of other Hoxd genes.Semantic proximity Read ↗

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