case_images: PMC2797364_01
case_images: PMC2797364_02
case_images: Computed Tomography of the C Spine, with 3D reconstruction, showing Klippel-Feil anomaly comprising of the fusion of multiple cervical and upper thoracic vertebrae.
case_images: CRM2009-361518.001.jpg
case_images: PMC2797364_02_CRM2009-361518.001.jpg
case_images: fig1
case_images: PMC2797364_03
case_images: (a) Nucleotide sequence chromatograms across the COMT G675A haplotype using (i) patient DNA, (ii) patient cDNA, (iii) mRNA/cDNA from a normal control heterozygote. (b) Expression of the COMT G675A variants. COMT amplicons from semiquantitative RT-PCR were visualized on an agarose gel after 33 cycles using beta
  2-actin and GAPDH (housekeeping genes) as the quantitation control. Lane 1:no cDNA control, lane 2:patient, lane 3 & 4:normal control individuals that were homozygous for the 675G allele.
case_images: CRM2009-361518.002.jpg
case_images: PMC2797364_04_CRM2009-361518.002.jpg
case_images: fig2
case_images: Only the patient (Figure 2(b), lane 2) expressed the 675A allele and both the patient and two normal controls (lanes 3 and 4) had comparable levels of expression of the 675G allele, as evident from the agarose gel electrophoresis of the amplicons.
case_images: PMC2797364_04
case_images: (a) Nucleotide sequence chromatograms across the COMT G675A haplotype using (i) patient DNA, (ii) patient cDNA, (iii) mRNA/cDNA from a normal control heterozygote. (b) Expression of the COMT G675A variants. COMT amplicons from semiquantitative RT-PCR were visualized on an agarose gel after 33 cycles using beta
  2-actin and GAPDH (housekeeping genes) as the quantitation control. Lane 1:no cDNA control, lane 2:patient, lane 3 & 4:normal control individuals that were homozygous for the 675G allele.
case_images: CRM2009-361518.002.jpg
case_images: PMC2797364_04_CRM2009-361518.002.jpg
case_images: fig2
case_images: Only the patient (Figure 2(b), lane 2) expressed the 675A allele and both the patient and two normal controls (lanes 3 and 4) had comparable levels of expression of the 675G allele, as evident from the agarose gel electrophoresis of the amplicons.