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Article

Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novel ROR2 gene mutations.

American journal of medical genetics. Part A - 1 Dec 2015

Aglan Mona, Amr Khalda, Ismail Samira, Ashour Adel, Otaify Ghada A, Mehrez Mennat Allah I, Aboul-Ezz Eman H A, El-Ruby Mona, Mazen Inas, Abdel-Hamid Mohamed S, Temtamy Samia A

Abstract excerpt

Robinow syndrome (RS) is a rare genetic disorder characterized by limb shortening, genital hypoplasia, and craniofacial/orodental abnormalities. The syndrome follows both autosomal dominant and recessive patterns of inheritance with similar phenotypic presentation and overlapping features. Autosomal recessive Robinow syndrome (ARRS) is caused by mutations in the ROR2 gene. Here, we present the clinical,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26284319
DOI: 10.1002/ajmg.a.37287

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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