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Article

Dominant versus recessive traits conveyed by allelic mutations - to what extent is nonsense-mediated decay involved?

Clinical genetics - 1 Apr 2009

Ben-Shachar S, Khajavi M, Withers M A, Shaw C A, van Bokhoven H, Brunner H G, Lupski J R

Abstract excerpt

Mutations in ROR2, encoding a receptor tyrosine kinase, can cause autosomal recessive Robinow syndrome (RRS), a severe skeletal dysplasia with limb shortening, brachydactyly, and a dysmorphic facial appearance. Other mutations in ROR2 result in the autosomal dominant disease, brachydactyly type B (BDB1). No functional mechanisms have been delineated to effectively explain the association between mutations and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Limb Deformities, Congenital

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Source

Identifiers

PMID: 19236432
DOI: 10.1111/j.1399-0004.2008.01114.x

Genes

ROR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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