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Article

Clinical and molecular characterization of two adults with autosomal recessive Robinow syndrome.

American journal of medical genetics. Part A - 15 Jul 2005

Tufan Fatih, Cefle Kivanc, Türkmen Seval, Türkmen Aydin, Zorba Unal, Dursun Memduh, Oztürk Sükrü, Palandüz Sükrü, Ecder Tevfik, Mundlos Stefan, Horn Denise

Abstract excerpt

Autosomal recessive Robinow syndrome is caused by mutations in ROR2 and is characterized by short stature, mesomelic limb shortening, brachydactyly, vertebral abnormalities, and a characteristic "fetal face" dysmorphology. We report the clinical and molecular studies on two adults with this condition. Besides typical skeletal and facial features, one patient developed hydronephrosis, nephrocalcinosis, and renal...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15952209
DOI: 10.1002/ajmg.a.30785

Genes

ROR2

Variants

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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Clinical and molecular characterization of two adults with autosomal recessive Robinow syndrome.PMID 15952209Read ↗

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One gene, two phenotypes: ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type B.Semantic proximity Read ↗

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