Whole-Exome Sequencing Identified a Novel Homozygous Frameshift Mutation of <i>HPS3</i> in a Consanguineous Family with Hermansky-Pudlak Syndrome

<div>The ophthalmologic examination data of the proband. (a) Photograph showing the hair color of the proband. (b) Photograph showing the eye position of the proband. (c) Iris transillumination. Proband’s iris with transillumination defects. (d) Fundus examination showing retinal pigmentation due to patchy areas lacking retinal pigment epithelium. (e) OCT examination showing locally thickened retinal epithelium in the macular area and disappearance of fovea structure.</div>

BioMed Research International

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Figure 2: Whole-Exome Sequencing Identified a Novel Homozygous Frameshift Mutation of <i>HPS3</i> in a Consanguineous Family with Hermansky-Pudlak Syndrome 

BioMed Research International

Whole-Exome Sequencing Identified a Novel Homozygous Frameshift Mutation of HPS3 in a Consanguineous Family with Hermansky-Pudlak Syndrome

Figure 2