Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy

@inproceedings{Testa2017MutationsIT,
  title={Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy},
  author={Francesco Testa and Mariaelena Filippelli and Raffaella Brunetti-Pierri and Giuseppina Di Fruscio and Valentina Di Iorio and M. C. Pizzo and Annalaura Torella and Maria Rosaria Barillari and Vincenzo Nigro and Nicola Brunetti-Pierri and Francesca Simonelli and Sandro Banfi},
  booktitle={European Journal of Human Genetics},
  year={2017}
}
Mutations in the PCYT1A gene have been recently linked to two different phenotypes: one characterized by spondylometaphyseal dysplasia and cone-rod dystrophy (SMD-CRD) and the other by congenital lipodystrophy, severe fatty liver disease, and reduced HDL cholesterol without any retinal or skeletal involvement. Here, we identified, by next generation sequencing, sequence variants affecting function in the PCYT1A gene in three young patients with isolated retinal dystrophy from two different… CONTINUE READING

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