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Identification of a novel mutation in the paired domain of PAX3 in an Iranian family with Waardenburg syndrome Type I

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Ophthalmologic Abnormalities in Mowat-Wilson Syndrome and a Mutation in ZEB2

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A novel mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome

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Detailed Assessment of Renal Function in a Proband with Harboyan Syndrome Caused by a Novel Homozygous SLC4A11 Nonsense Mutation

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