Panel testing recommended at Breda Genetics for this condition: Cerebroretinal microangiopathy with calcifications and cysts – Coats plus syndrome – and its differential diagnosis (CTC1, POT1, SNORD118, SLC20A2, PDGFRB, PDGFB) If negative: Dyskeratosis congenita and its differential diagnosis (ADC, CTC1, DKC1, NHP2,[…]
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