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Zebrafish <i>adamtsl4</i> knockout recapitulates key features of human <i>ADAMTSL4</i> -related diseases: a gene involved in extracellular matrix organization, cell junctions and development

2025-01-18

Abstract excerpt

<h4>ABSTRACT</h4> Loss-of-function mutations in ADAMTSL4, a gene encoding an extracellular matrix-associated protein with incompletely understood biological roles, are linked to autosomal recessive disorders predominantly characterized by lens dislocation. Pupil ectopia, increased intraocular pressure, retinal detachment, cataracts, and skeletal abnormalities are also observed in some patients. To investigate A...

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Literature Corpus work
cb925dc1-0055-5871-8e14-0c10e631cfec
DOI
10.1101/2025.01.16.632701
Open publication

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