Gross deletions in TCOF1 are a cause of Treacher–Collins–Franceschetti syndrome

Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome

(2010) Johannes G Dauwerse et al.   NATURE GENETICS

A synonymous mutation inTCOF1causes Treacher Collins syndrome due to mis-splicing of a constitutive exon

(2009) D. Macaya et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Role of 5′- and 3′-untranslated regions of mRNAs in human diseases

(2009) Sangeeta Chatterjee et al.   BIOLOGY OF THE CELL

3′ end mRNA processing: molecular mechanisms and implications for health and disease

(2008) Sven Danckwardt et al.   EMBO JOURNAL

Identification of RPS14 as a 5q- syndrome gene by RNA interference screen

(2008) Benjamin L. Ebert et al.   NATURE

Detection of a novel silent deletion, a missense mutation and a nonsense mutation inTCOF1

(2008) Hirotaka Fujioka et al.   PEDIATRICS INTERNATIONAL