Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Identification of a novel causative mutation in the ROR2 gene in a Lebanese family with a mild form of recessive Robinow syndrome.

European journal of medical genetics - 1 Feb 2012

Mehawej Cybel, Chouery Eliane, Maalouf Diane, Baujat Geneviève, Le Merrer Martine, Cormier-Daire Valérie, Mégarbané André

Abstract excerpt

Autosomal recessive Robinow syndrome (OMIM 268310) is a condition caused by mutations in the ROR2 gene, the receptor tyrosine kinase-like orphan receptor 2. The main characteristic features are: a face resembling that of a fetus, cleft lip and palate, mesomelic limb shortening, a micropenis in males, hydronephrosis or urinary tract infections, and skeletal and vertebral anomalies. This study reports two sisters...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Craniofacial Abnormalities
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant

Share to Lebanon

Share to Limb Deformities, Congenital

Share to Pedigree

Share to Receptor Tyrosine Kinase-like Orphan Receptors

Source

Identifiers

PMID: 22178368
DOI: 10.1016/j.ejmg.2011.11.003

Genes

ROR2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of a novel causative mutation in the ROR2 gene in a Lebanese family with a mild form of recessive Robinow syndrome.PMID 22178368Read ↗

Clinical and molecular characterization of two adults with autosomal recessive Robinow syndrome.Semantic proximity Read ↗

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

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

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

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

Robinow syndrome.Semantic proximity Read ↗

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

A homozygous ROR2 variant in a family with atypical Robinow syndrome and tetramelic transverse deficiency of autopods.Semantic proximity Read ↗

Robinow syndrome in an extremely preterm infant: Novel homozygous ROR2 variant detected by rapid exome sequencing.Semantic proximity Read ↗

Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation.Semantic proximity Read ↗

Clinical and molecular characterization of four patients with Robinow syndrome from different families.Semantic proximity Read ↗

ROR-Family Receptor Tyrosine Kinases.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.