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Article

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

BMC medical genetics - 11 Dec 2007

Malik Sajid, Girisha K M, Wajid Muhammad, Roy Akhilesh K, Phadke Shubha R, Haque Sayedul, Ahmad Wasim, Koch Manuela C, Grzeschik Karl-Heinz

Abstract excerpt

BACKGROUND: Type II syndactyly or synpolydactyly (SPD) is clinically very heterogeneous, and genetically three distinct SPD conditions are known and have been designated as SPD1, SPD2 and SPD3, respectively. SPD1 type is associated with expansion mutations in HOXD13, resulting in an addition of >...

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Identifiers

PMID: 18072967
DOI: 10.1186/1471-2350-8-78
PMCID: PMC2222244

Genes

HOXD13

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18072967-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Synpolydactyly and HOXD13 polyalanine repeat: addition of 2 alanine residues is without clinical consequences.PMID 18072967Read ↗

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

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

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

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

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

HOXD13-associated synpolydactyly: Extending and validating the genotypic and phenotypic spectrum with 38 new and 49 published families.Semantic proximity Read ↗

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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 ↗

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

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