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Article

WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.

American journal of human genetics - 4 Jan 2018

White Janson J, Mazzeu Juliana F, Coban-Akdemir Zeynep, Bayram Yavuz, Bahrambeigi Vahid, Hoischen Alexander, van Bon Bregje W M, Gezdirici Alper, Gulec Elif Yilmaz, Ramond Francis, Touraine Renaud, Thevenon Julien, Shinawi Marwan, Beaver Erin, Heeley Jennifer, Hoover-Fong Julie, Durmaz Ceren D, Karabulut Halil Gurhan, Marzioglu-Ozdemir Ebru, Cayir Atilla, Duz Mehmet B, Seven Mehmet, Price Susan, Ferreira Barbara Merfort, Vianna-Morgante Angela M, Ellard Sian, Parrish Andrew, Stals Karen, Flores-Daboub Josue, Jhangiani Shalini N, Gibbs Richard A, Brunner Han G, Sutton V Reid, Lupski James R, Carvalho Claudia M B

Abstract excerpt

Locus heterogeneity characterizes a variety of skeletal dysplasias often due to interacting or overlapping signaling pathways. Robinow syndrome is a skeletal disorder historically refractory to molecular diagnosis, potentially stemming from substantial genetic heterogeneity. All current known pathogenic variants reside in genes within the noncanonical Wnt signaling pathway including ROR2, WNT5A, and more...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 29276006
DOI: 10.1016/j.ajhg.2017.10.002
PMCID: PMC5777383

Genes

DVL1
DVL3
FZD2
NXN
GPC4
RAC3
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

Semantic proximity does not establish scientific evidence.

Research trail→

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WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.PMID 29276006Read ↗

Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome.Semantic proximity Read ↗

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

De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype.Semantic proximity Read ↗

Biallelic loss-of-function WNT5A mutations in an infant with severe and atypical manifestations of Robinow syndrome.Semantic proximity Read ↗

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

Pathogenic <i>DVL</i> frameshifting variants in Robinow syndrome disrupt WNT signaling and cellular dynamicsSemantic proximity Read ↗

Nonsense mutations in FZD2 cause autosomal-dominant omodysplasia: Robinow syndrome-like phenotypes.Semantic proximity Read ↗

Abnormal WNT5A Signaling Causes Mandibular Hypoplasia in Robinow Syndrome.Semantic proximity Read ↗

FRIZZLED 2 regulates limb development by mediating both β-catenin-dependent and independent Wnt signaling pathwaysSemantic proximity Read ↗

Characterization of the Robinow syndrome skeletal phenotype, bone micro-architecture, and genotype-phenotype correlations with the osteosclerotic form.Semantic proximity Read ↗

Genetic analysis of Mayer-Rokitansky-Kuster-Hauser syndrome in a large cohort of families.Semantic proximity Read ↗

Robinow Syndrome <i>DVL1</i> variants disrupt morphogenesis and appendage formation in a Drosophila disease modelSemantic proximity Read ↗

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