Fig. 4From: Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast regionElectropherogram showing a novel frameshift mutation c.83dupT (p.W29Mfs*10) found in Brazilians patients. The red arrow indicates a duplication of a thymine in homozygosity found in a patient with pycnodysostosis and below is the sequencing of a control individualBack to article page