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Article

Physical map of a 1.5 mb region on 12p11.2 harbouring a synpolydactyly associated chromosomal breakpoint.

European journal of human genetics : EJHG - 1 Aug 2000

Debeer P, Schoenmakers E F, Thoelen R, Holvoet M, Kuittinen T, Fabry G, Fryns J P, Goodman F R, Van de Ven W J

Abstract excerpt

Synpolydactyly (SPD) is a rare malformation of the distal limbs known to be caused by mutations in HOXD13. We have previously described a complex form of SPD associated with synostoses in three members of a Belgian family, which co-segregates with a t(12;22)(p11.2;q13.3) chromosomal translocation. The chromosome 12 breakpoint of this translocation maps to 12p11.2 between markers D12S1034 and D12S1596. Here we...

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Identifiers

PMID: 10951517
DOI: 10.1038/sj.ejhg.5200497

Genes

HOXD13

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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.

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