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Novel compound heterozygous STN1 variants are associated with Coats Plus syndrome.
Acharya, Tanvi; Firth, Helen V; Dugar, Shilpa; Grammatikopoulos, Tassos; Seabra, Luis; Walters, Angharad; Crow, Yanick J; Parker, Alasdair P J.
Affiliation
  • Acharya T; School of Clinical Medicine, Cambridge University, Cambridge, UK.
  • Firth HV; Department of Clinical Genetics, Addenbrooke's Hospital, Cambridge, UK.
  • Dugar S; Paediatric Liver, GI and Nutrition Centre and Mowat Labs, King's College Hospital NHS Foundation Trust, London, UK.
  • Grammatikopoulos T; Paediatric Liver, GI and Nutrition Centre and Mowat Labs, King's College Hospital NHS Foundation Trust, London, UK.
  • Seabra L; Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine, Paris, France.
  • Walters A; Cambridgeshire Community Services, Brooksfield Hospital, Cambridge, UK.
  • Crow YJ; Centre for Genomic and Experimental Medicine, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
  • Parker APJ; School of Clinical Medicine, Cambridge University, Cambridge, UK.
Mol Genet Genomic Med ; 9(12): e1708, 2021 12.
Article in En | MEDLINE | ID: mdl-34110109
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Retinal Diseases / Ataxia / Seizures / Brain Neoplasms / Calcinosis / Genetic Predisposition to Disease / Central Nervous System Cysts / Telomere-Binding Proteins / Leukoencephalopathies / Heterozygote Type of study: Prognostic_studies / Risk_factors_studies Limits: Child / Humans / Male Language: En Journal: Mol Genet Genomic Med Year: 2021 Document type: Article Affiliation country: Reino Unido Country of publication: Estados Unidos
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Retinal Diseases / Ataxia / Seizures / Brain Neoplasms / Calcinosis / Genetic Predisposition to Disease / Central Nervous System Cysts / Telomere-Binding Proteins / Leukoencephalopathies / Heterozygote Type of study: Prognostic_studies / Risk_factors_studies Limits: Child / Humans / Male Language: En Journal: Mol Genet Genomic Med Year: 2021 Document type: Article Affiliation country: Reino Unido Country of publication: Estados Unidos