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Mutation in IFT80 gene in a foetus with a phenotype of Verma-Naumoff provides molecular evidence for the Jeune-Verma-Naumoff dysplasia spectrum
Journal of Medical Genetics, 08/24/09
Cavalcanti DP et al. – Findings demonstrate that mutations in IFT80 can also be responsible for a lethal form of SRP and provides the molecular basis for the Jeune–Verma–Naumoff dysplasia spectrum.
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