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Article

Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation.

American journal of medical genetics. Part A - 1 Nov 2008

Brunetti-Pierri Nicola, Del Gaudio Daniela, Peters Hartmut, Justino Henri, Ott Claus-Eric, Mundlos Stefan, Bacino Carlos A

Abstract excerpt

Robinow syndrome comprises dysmorphic facial features, short stature, brachymesomelia, segmental spine defects, and genital hypoplasia. The range of severity in this disorder is broad. We report on the clinical and molecular findings of two sib pairs from the same extended family with Robinow syndrome due to a novel intragenic ROR2 deletion involving exons 6 and 7 that could not be detected by sequencing. The...

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Source

Identifiers

PMID: 18831060
DOI: 10.1002/ajmg.a.32530

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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