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

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 i...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Testa, Francesco, Filippelli, Mariaelena, Brunetti-Pierri, Raffaella, Di Fruscio, Giuseppina, Di Iorio, Valentina, Pizzo, Mariateresa, Torella, Annalaura, Barillari, Maria Rosaria, Nigro, Vincenzo, Brunetti-Pierri, Nicola, Simonelli, Francesca, Banfi, Sandro
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2017
Assuntos:
Short Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5392360/
https://ncbi.nlm.nih.gov/pubmed/28272537
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2017.23
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