• Published 2005

Macular degeneration associated with a novel Treacher Collins tcof 1 mutation and evaluation of this mutation in age related macular degeneration

@inproceedings{Bhola2005MacularDA,
  title={Macular degeneration associated with a novel Treacher Collins tcof 1 mutation and evaluation of this mutation in age related macular degeneration},
  author={Rk Bhola and Arthur Lewis Rosenbaum},
  year={2005}
}
Treacher Collins syndrome (TCS) results from defects in a nucleolar trafficking protein (Treacle) coded for by the TCOF1 gene. The purpose of this report is, firstly, to describe an isolated male with TCS associated with macular degeneration who also had a novel TCOF1 gene mutation and, secondly, to evaluate this mutation in a well characterised cohort of 95 patients with age related macular degeneration (AMD). 

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