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Article

A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly.

American journal of human genetics - 1 Feb 2002

Goodman Frances R, Majewski Frank, Collins Amanda L, Scambler Peter J

Abstract excerpt

Studies in mouse and chick have shown that the 5' HoxD genes play major roles in the development of the limbs and genitalia. In humans, mutations in HOXD13 cause the dominantly inherited limb malformation synpolydactyly (SPD). Haploinsufficiency for the 5' HOXD genes has recently been proposed to underlie the monodactyly and penoscrotal hypoplasia in two children with chromosomal deletions encompassing the entire...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 11778160
DOI: 10.1086/338921
PMCID: PMC384929

Genes

EVX2
HOXD13
HOXD9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly.PMID 11778160Read ↗

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

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