Novel compound heterozygous STN1 variants are associated with Coats Plus syndrome

Abstract 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 gastrointesti...

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Hlavní autoři:	Tanvi Acharya, Helen V. Firth, Shilpa Dugar, Tassos Grammatikopoulos, Luis Seabra, Angharad Walters, Yanick J. Crow, Alasdair P. J. Parker
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Wiley 2021-12-01
Edice:	Molecular Genetics & Genomic Medicine
Témata:	coats plus leukodystrophy stn1
On-line přístup:	https://doi.org/10.1002/mgg3.1708
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