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Coats plus syndrome: a rare cause of severe gastrointestinal tract bleeding in children – a case report

BACKGROUND: Coats plus syndrome, cerebroretinal microangiopathy with calcifications and cysts, is a rare disease with autosomal recessive pattern occurring due to a mutation in CTC1, encoding conserved telomere maintenance component 1, gene. Besides retinal involvement, abnormalities in brain and os...

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Detalles Bibliográficos
Autores principales: Bozkurt, Selcen, Usta, Ayse Merve, Urganci, Nafiye, Kalay, Nida Gulderen, Kose, Gulsen, Ozmen, Evrim
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8903628/
https://www.ncbi.nlm.nih.gov/pubmed/35260125
http://dx.doi.org/10.1186/s12887-022-03140-5