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Published in 2022 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2022.2051193
Abstract: ABSTRACT Background Coats plus syndrome or cerebroretinal microangiopathy with calcifications and cysts (CMCC) is an exceedingly rare autosomal recessive disorder that predominantly affects the microvasculature in the retina, brain, bones, and gastrointestinal system. Unlike Coats…
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Keywords:
coats plus;
prematurity;
pathology;
plus syndrome ... See more keywords
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Published in 2020 at "Pediatric Dermatology"
DOI: 10.1111/pde.14366
Abstract: We present a 6‐year‐old girl with skin hyperpigmentation, leukoplakia, and onychodystrophy, the classic mucocutaneous triad usually associated with dyskeratosis congenita. The patient also had premature graying of the hair, bone marrow failure, hepatitis, exudative retinopathy,…
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Keywords:
syndrome cerebroretinal;
coats plus;
plus syndrome;
microangiopathy calcifications ... See more keywords