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Article

Novel mutations of the HOXD13 gene in hand and foot malformations.

International surgery - 1 Jan 2000

Nakano Kayoko, Sakai Naohiko, Yamazaki Yasuharu, Watanabe Hiroi, Yamada Naoto, Sezaki Koichiro, Susami Takafumi, Tokunaga Katsushi, Takato Tsuyoshi, Uchinuma Eiju

Abstract excerpt

Homeobox genes encode a set of transcription factors of fundamental importance for body patterning during embryogenesis. Hoxa9-a13 and Hoxd9-d13 play an especially important part in vertebrate limb development. Synpolydactyly (SPD) is characterized by various malformations of the limbs. The expansion of the polyalanine tract in 1OXD13 is one of its major causes. Recently, there have been many analysis studies of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18399101

Genes

HOXD13

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

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Research trail→

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Novel mutations of the HOXD13 gene in hand and foot malformations.PMID 18399101Read ↗

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

Limb malformations and the human HOX genes.Semantic proximity Read ↗

A novel non-synonymous mutation in the 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 ↗

Joining the fingers: a HOXD13 Story.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 ↗

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

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

Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome.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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