Skip to main content
Fig. 1 | Genome Biology

Fig. 1

From: Mutation in WDR4 impairs tRNA m7G46 methylation and causes a distinct form of microcephalic primordial dwarfism

Fig. 1

Identification of a novel PD syndrome. a Family pedigree of 14DG1157 & 14DG1160 showing the consanguineous nature of the parents. The index is indicated in each pedigree by an arrow, and asterisks denote individuals whose DNA was available for analysis. b, c Facial images for the index of each family showing the highly similar dysmorphic profile consisting of high forehead, prominent eyes, depressed nasal bridge, short philtrum, tented upper lip and bulged alveolar ridge, and prominent ear lobule. d–g MRI image of 14DG1160 showing partial agenesis of corpus callosum, and abnormal gyral pattern most pronounced posteriorly

Back to article page

Genome Biology

ISSN: 1474-760X

Contact us