Adam Kimple, Author at Renal and Urology News

Adam Kimple

All articles by Adam Kimple

Treacher-Collins syndrome

OVERVIEW: What every practitioner needs to know Treacher-Collins syndrome (TCS, also known as mandibulofacial dysostosis or Franceschetti-Zwahlen-Klein syndrome) is an autosomal dominant condition that typically results from a spontaneous mutation in the gene TCOF1, which encodes a nucleolar phosphoprotein named Treacle. TCS results in symmetric craniofacial defects, the severity of which varies considerably from person…

Next post in Pediatrics