title: A new syndrome presenting with dysmorphic facies, oculocutaneous albinism, glaucoma, cryptorchidism and mental retardation.
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.
authors: Department of Medical Genetics, Cerrahpasa School of Medicine, Istanbul University, Istanbul, Turkey. mimseven@istanbul.edu.tr
authors: M
authors: M
authors: Seven
authors: E
authors: E
authors: Yosunkaya
authors: S B
authors: SB
authors: Yilmaz
authors: E
authors: E
authors: Karaca
authors: G
authors: G
authors: Guven
authors: A
authors: A
authors: Yuksel