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Article

Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum.

Journal of medical genetics - 1 Feb 2011

Cavalcanti Denise P, Huber Celine, Sang Kim-Hanh Le Quan, Baujat Geneviève, Collins Felicity, Delezoide Anne-Lise, Dagoneau Nathalie, Le Merrer Martine, Martinovic Jelena, Mello Marcos Fernando S, Vekemans Michel, Munnich Arnold, Cormier-Daire Valerie

Abstract excerpt

BACKGROUND: The lethal group of short-rib polydactyly (SRP) includes type I (Saldino-Noonan; MIM 263530), type II (Majewski; MIM 263520), type III (Verma-Naumoff; MIM 263510) and type IV (Beemer-Langer; MIM 269860). Jeune and Ellis-van Creveld dysplasias also used to be classified in the SRP group. Recently, mutations in a gene encoding a protein involved in intraflagellar transport, IFT80, have been identified...

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Identifiers

PMID: 19648123
DOI: 10.1136/jmg.2009.069468

Genes

IFT80

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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