A new syndrome presenting with dysmorphic facies, oculocutaneous albinism, glaucoma, cryptorchidism and mental retardation
Seven, M.; Yosunkaya, E.; Yilmaz, S.B.; Karaca, E.; Guven, G.; Yuksel, A.
Genetic Counseling 22(1): 25-34
2011
ISSN/ISBN: 1015-8146 PMID: 21614985 Document Number: 653977
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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