Article

Connective tissue growth in a mouse model of Kosaki overgrowth syndrome is limited by STAT1

2026-04-12

Abstract excerpt

<h4>ABSTRACT</h4> Mutations in platelet-derived growth factor receptor beta (PDGFRβ) cause Kosaki overgrowth syndrome (KOGS). Patients exhibit increased linear growth, craniosynostosis, and thin skin with increased elasticity and scarring. Of the KOGS patients identified to date, three unrelated individuals carried a P584R mutation in the juxtamembrane domain of PDGFRβ, resulting in constitutive receptor activati...

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Literature Corpus work: 432eef28-c3da-5ef2-a64b-11a98bcc51ed
DOI: 10.64898/2026.04.09.717535

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