Lathosterolosis: A Relatively Mild Case with Cataracts and Learning Difficulties.

Anderson, R; Rust, S; Ashworth, J; Clayton-Smith, J; Taylor, R L; Clayton, P T; Morris, A A M

Anderson, R; Rust, S; Ashworth, J; Clayton-Smith, J; Taylor, R L; Clayton, P T; Morris, A A M.

Afiliación

Anderson R; Willink Metabolic Unit, Manchester Academic Health Sciences Centre, Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
Rust S; Paediatric Psychosocial Service, Manchester Academic Health Sciences Centre, Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
Ashworth J; Paediatric Ophthalmology Department, Manchester Academic Health Sciences Centre, Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
Clayton-Smith J; Genomic Medicine, Manchester Academic Health Sciences Centre, Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
Taylor RL; Division of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
Clayton PT; Division of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
Morris AAM; Centre for Translational Omics, Genetics and Genomic Medicine, UCL Institute of Child Health, London, UK.

JIMD Rep ; 44: 79-84, 2019.

Article en En | MEDLINE | ID: mdl-30097991

Palabras clave

Cataracts; Cholesterol synthesis; Dysmorphism; Lathosterolosis; Learning difficulties; SC5D mutations

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Idioma: En Revista: JIMD Rep Año: 2019 Tipo del documento: Article País de afiliación: Reino Unido

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