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Article

Homozygous nonsense mutation in HOXD13 underlies synpolydactyly with a cleft.

Clinical dysmorphology - 1 Jul 2012

Low Karen J, Nwbury-Ecob Ruth A

Abstract excerpt

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Share to Cleft Lip
Share to Codon, Nonsense
Share to Fingers
Share to Hand Deformities, Congenital

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Neonatal Screening

Share to Peptide Chain Termination, Translational

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Source

Identifiers

PMID: 22473151
DOI: 10.1097/MCD.0b013e32835306f0

Genes

HOXD13

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Homozygous nonsense mutation in HOXD13 underlies synpolydactyly with a cleft.PMID 22473151Read ↗

A nonsense mutation in the HOXD13 gene underlies synpolydactyly with incomplete penetranceSemantic proximity Read ↗

A heterozygous duplication variant of the HOXD13 gene caused synpolydactyly type 1 with variable expressivity in a 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 ↗

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

Exome sequencing identifies a novel nonsense mutation of HOXD13 in a Chinese family with synpolydactyly.Semantic proximity Read ↗

A novel mutation outside homeodomain of HOXD13 causes synpolydactyly 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 ↗

A Novel Mutation in Human PAX9 Causes Molar OligodontiaSemantic proximity Read ↗

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

HOXD13 polyalanine tract expansion in classical synpolydactyly type Vordingborg.Semantic proximity Read ↗

Long-Read Whole-Genome Sequencing Uncovers a Deletion Upstream to HOXD13 Causing Synpolydactyly.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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