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Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome.
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Document type | Article de périodique (Journal article) – Article de recherche |
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Access type | Accès libre |
Publication date | 2019 |
Language | Anglais |
Journal information | "Genetics in medicine : official journal of the American College of Medical Genetics" - Vol. 21, no.9, p. 2025-2035 (2019) |
Peer reviewed | yes |
Publisher | Nature Publishing Group ((United States) New York, NY) |
issn | 1098-3600 |
e-issn | 1530-0366 |
Publication status | Publié |
Affiliations |
UCL
- SSS/IONS - Institute of NeuroScience UCL - SSS/IONS/NEUR - Clinical Neuroscience UCL - (SLuc) Service de neurologie pédiatrique |
MESH Subject | Age of Onset ; Alopecia ; Child ; Child, Preschool ; Cholesterol ; Developmental Disabilities ; Epilepsy ; Female ; Humans ; Infant ; Intellectual Disability ; Intramolecular Transferases ; Lanosterol ; Male ; Mutation ; Pedigree ; Phenotype ; Squalene ; Whole Exome Sequencing |
Keywords | LSS ; Alopecia ; Cholesterol pathway ; Early-onset epileptic encephalopathy ; Intellectual disability |
Links |
Bibliographic reference | Besnard, Thomas ; Sloboda, Natacha ; Goldenberg, Alice ; Küry, Sébastien ; Cogné, Benjamin ; et. al. Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome.. In: Genetics in medicine : official journal of the American College of Medical Genetics, Vol. 21, no.9, p. 2025-2035 (2019) |
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Permanent URL | http://hdl.handle.net/2078.1/239317 |