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

• Glavni autori: Selcen Bozkurt (Autor), Ayse Merve Usta (Autor), Nafiye Urganci (Autor), Nida Gulderen Kalay (Autor), Gulsen Kose (Autor), Evrim Ozmen (Autor)
• Format: Knjiga
• Izdano: BMC, 2022-03-01T00:00:00Z.
• Teme: article
• Online pristup: Connect to this object online.

Abstract 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 brai...