Article

Direct and Indirect Regulation of SIX1+EYA Transcriptional Activity by PA2G4, MCRS1, and SOBP

2024-09-30

Abstract excerpt

Branchio-oto-renal (BOR) syndrome is an autosomal dominant condition characterized by variable craniofacial malformations, hearing loss and in some patients, renal dysfunction. Recently, a clinical study showed that patients with mutations causative of BOR also present with craniosynostosis, indicating that this could be an undiagnosed feature of BOR. Approximately half of all patients presenting with BOR have a v...

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Literature Corpus work: dfb93226-9466-56ec-95a5-45b4b38d83f3
DOI: 10.1101/2024.09.28.615612

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