Article

Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome

2024-02-02

Abstract excerpt

<h4>Background: </h4> /Objectives: Rare genetic disorders causing specific congenital developmental abnormalities often manifest in single families. Investigation of disease-causing molecular features are most times lacking, although these investigations may open novel therapeutic options for patients. In this study, we aimed to identify the genetic cause in an Iranian patient with severe skeletal dysplasia and t...

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Literature Corpus work: 283b42b3-a904-5937-b08e-93d66e572b3f
DOI: 10.21203/rs.3.rs-3899944/v1

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