Article

Dominant nonsense mutations in efemp1 alter vertebral and craniofacial characteristics in adult zebrafish

2024-02-21

Abstract excerpt

Heritable Disorders of Connective Tissues (HDCT) are a heterogenous, pleiotropic group of conditions that broadly affect connective tissues. EFEMP1 is a member of the fibulin family of extracellular matrix (ECM) glycoproteins which is expressed in various human tissues. Individuals with EFEMP1 variants have recently been identified and appear to have Marfan-like characteristics. Clinical phenotypes of these indi...

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Literature Corpus work: 3c8a8b79-8d55-5b9c-a78b-fa5f79255082
DOI: 10.1101/2024.02.16.580611

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