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Novel compound heterozygous STN1 variants are associated with Coats Plus syndrome.

Molecular genetics & genomic medicine - 1 Dec 2021

Acharya Tanvi, Firth Helen V, Dugar Shilpa, Grammatikopoulos Tassos, Seabra Luis, Walters Angharad, Crow Yanick J, Parker Alasdair P J

Abstract excerpt

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 tract, portal hypertension and osteopenia with a tendency to fractures. CP most frequently occurs due to...

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Identifiers

PMID: 34110109
DOI: 10.1002/mgg3.1708
PMCID: PMC8683631

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Novel compound heterozygous STN1 variants are associated with Coats Plus syndrome.PMID 34110109Read ↗

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