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Updated: Jun 1, 2026

Measuring Connectivity in the Primary Visual Pathway in Human Albinism Using Diffusion Tensor Imaging and Tractography
Published on: August 11, 2016
A new syndrome presenting with dysmorphic facies, oculocutaneous albinism, glaucoma, cryptorchidism and mental
M Seven1, E Yosunkaya, S B Yilmaz
1Department of Medical Genetics, Cerrahpasa School of Medicine, Istanbul University, Istanbul, Turkey. mimseven@istanbul.edu.tr
Abstract:
We report a case with a new syndrome that presents with glaucoma, cryptorchidism, oculocutaneous albinism, ataxia, hypotonia, autistic behaviour besides various major and minor craniofacial dysmorphic, skeletal, and neuroimaging findings, and suggest that this case represents a new syndrome not reported previously.
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