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Article

Differences in complexity of isolated brachydactyly type C cannot be attributed to locus heterogeneity alone.

American journal of medical genetics - 22 Jan 2001

Galjaard R J, van der Ham L I, Posch N A, Dijkstra P F, Oostra B A, Hovius S E, Timmenga E J, Sonneveld G J, Hoogeboom A J, Heutink P

Abstract excerpt

Hereditary isolated brachydactyly type C (OMIM 113100) mostly follows an autosomal dominant pattern of inheritance with a marked variability in expression. This phenotype has been mapped to two different loci on chromosomes 12q24 and 20q11.2. The latter locus contains the cartilage-derived morphogenetic protein (CDMP)1 gene, in which a null mutation has been found in patients with malformations restricted to the...

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Identifiers

PMID: 11169564
DOI: 10.1002/1096-8628(20010122)98:3<256::aid-ajmg1088>3.0.co;2-d

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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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