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Article

A novel duplication in the HOXA13 gene in a family with atypical hand-foot-genital syndrome.

Journal of medical genetics - 1 Apr 2003

Frisén L, Lagerstedt K, Tapper-Persson M, Kockum I, Nordenskjöld A

Abstract excerpt

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Topics

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Share to Abnormalities, Multiple
Share to Chromosomes, Human, Pair 7
Share to Family Health
Share to Gene Duplication

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homeodomain Proteins

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Source

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Identifiers

PMID: 12676922
DOI: 10.1136/jmg.40.4.e49
PMCID: PMC1735421

Genes

HOXA13

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Research trail→

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A novel duplication in the HOXA13 gene in a family with atypical hand-foot-genital syndrome.PMID 12676922Read ↗

Familial deletion of the HOXA gene cluster associated with Hand-Foot-Genital syndrome and phenotypic variability.Semantic proximity Read ↗

Severe manifestations of hand-foot-genital syndrome associated with a novel HOXA13 mutation.Semantic proximity Read ↗

Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome.Semantic proximity Read ↗

A missense mutation of HOXA13 underlies hand-foot-genital syndrome in a Chinese family.Semantic proximity Read ↗

Dual genetic diagnoses: Atypical hand-foot-genital syndrome and developmental delay due to de novo mutations in HOXA13 and NRXN1.Semantic proximity Read ↗

[Whole-Exome Sequencing for monogenic disorders affecting the orthopaedic system].Semantic proximity Read ↗

A novel mutation of HOXA13 in a family with hand-foot-genital syndrome and the role of polyalanine expansions in the spectrum of Müllerian fusion anomalies.Semantic proximity Read ↗

Human HOX gene mutations.Semantic proximity Read ↗

Molecular cytogenetic and clinical characterization of a patient with a 5.6-Mb deletion in 7p15 including HOXA cluster.Semantic proximity Read ↗

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

A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome.Semantic proximity Read ↗

Hand-foot-genital syndrome with a 7p15 deletion: clinically recognizable syndrome.Semantic proximity Read ↗

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