Novel compound heterozygous STN1 variants are associated with Coats Plus syndrome

AIM: Coats plus syndrome (CP) is a rare autosomal recessive disorder, characterised by retinal telangiectasia exudates (Coats disease), leukodystrophy, distinctive intracranial calcification and cysts, as well as extra‐neurological features including abnormal vasculature of the gastrointestinal trac...

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Detalles Bibliográficos
Autores principales: Acharya, Tanvi, Firth, Helen V., Dugar, Shilpa, Grammatikopoulos, Tassos, Seabra, Luis, Walters, Angharad, Crow, Yanick J., Parker, Alasdair P. J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8683631/
https://www.ncbi.nlm.nih.gov/pubmed/34110109
http://dx.doi.org/10.1002/mgg3.1708

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8683631/
https://www.ncbi.nlm.nih.gov/pubmed/34110109
http://dx.doi.org/10.1002/mgg3.1708

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