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Article

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

Human molecular genetics - 1 Jun 1998

Johnson K R, Sweet H O, Donahue L R, Ward-Bailey P, Bronson R T, Davisson M T

Abstract excerpt

Human synpolydactyly (SPD) is an inherited congenital limb malformation caused by mutations in the HOXD13 gene. Heterozygotes are typically characterized by 3/4 finger and 4/5 toe syndactyly with associated duplicated digits; hands and feet of homozygotes are very small because of a shortening of...

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Source

Identifiers

PMID: 9580668
DOI: 10.1093/hmg/7.6.1033

Genes

HOXD13

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-9580668-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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A new spontaneous mouse mutation of Hoxd13 with a polyalanine expansion and phenotype similar to human synpolydactyly.PMID 9580668Read ↗

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 ↗

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

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

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

The synpolydactyly homolog (spdh) mutation in the mouse -- a defect in patterning and growth of limb cartilage elements.Semantic proximity Read ↗

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

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Mutation analysis of HOXD13 gene in a Chinese pedigree with synpolydactyly.Semantic proximity Read ↗

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

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