Article

Talin1 dysfunction is genetically linked to systemic capillary leak syndrome

2022-10-25

Abstract excerpt

<h4>ABSTRACT</h4> Systemic capillary leak syndrome (SCLS) is a rare life-threatening disorder due to profound vascular leak. The trigger and the cause of the disease is currently unknown and there is no specific treatment. Here, we identified a rare heterozygous splice-site variant in the TLN1 gene in a familial SCLS case, suggestive of autosomal dominant inheritance with incomplete penetrance. Talin1 has a key ro...

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Literature Corpus work: 6235443b-af80-5229-994b-489e2e73a03c
DOI: 10.1101/2022.10.17.22280833

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