Lau et al., 2016 - Pathogenesis of POLR1C-dependent type 3 treacher Collins syndrome revealed by a zebrafish model. Biochimica et biophysica acta. Molecular basis of disease   1862(6):1147-58 Full text @ BBA Molecular Basis of Disease
11 Genes / Markers
Marker Type Symbol Name
Gene capn3a calpain 3a, (p94)
Gene ccng1 cyclin G1
Gene cdkn1a cyclin dependent kinase inhibitor 1A
Gene col2a1a collagen, type II, alpha 1a
Gene dlx2a distal-less homeobox 2a
Gene eef1a1l1 eukaryotic translation elongation factor 1 alpha 1, like 1
Gene fmn1 formin 1
Gene polr1c RNA polymerase I and III subunit C
Gene sox9a SRY-box transcription factor 9a
Gene tp53 tumor protein p53
Gene ttr transthyretin (prealbumin, amyloidosis type I)