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

Cavalcanti, Denise P ; Huber, Celine ; Le Quan Sang, Kim-Hanh ; 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

Journal of medical genetics, 2011-02, Vol.48 (2), p.88-92 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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