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Article

Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome.

Nature genetics - 1 Aug 2000

van Bokhoven H, Celli J, Kayserili H, van Beusekom E, Balci S, Brussel W, Skovby F, Kerr B, Percin E F, Akarsu N, Brunner H G

Abstract excerpt

Robinow syndrome is a short-limbed dwarfism characterized by abnormal morphogenesis of the face and external genitalia, and vertebral segmentation. The recessive form of Robinow syndrome (RRS; OMIM 268310), particularly frequent in Turkey, has a high incidence of abnormalities of the vertebral column such as hemivertebrae and rib fusions, which is not seen in the dominant form. Some patients have cardiac...

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Share to Abnormalities, Multiple
Share to Chromosomes, Human, Pair 9

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, Recessive

Share to Limb Deformities, Congenital

Share to Receptor Protein-Tyrosine Kinases

Share to Receptor Tyrosine Kinase-like Orphan Receptors

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Source

Identifiers

PMID: 10932187
DOI: 10.1038/78113

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.

Related research

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Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome.PMID 10932187Read ↗

Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2.Semantic proximity Read ↗

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Phenotypic and mutational spectrum of ROR2-related Robinow syndrome.Semantic proximity Read ↗

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Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B.Semantic proximity Read ↗

Ror2 knockout mouse as a model for the developmental pathology of autosomal recessive Robinow syndrome.Semantic proximity Read ↗

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