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SRY mutation analysis by next generation (deep) sequencing in a cohort of chromosomal Disorders of Sex Development (DSD) patients with a mosaic karyotype

Remko Hersmus, Hans Stoop, Erin Turbitt, J Wolter Oosterhuis, Stenvert LS Drop, Andrew H Sinclair, Stefan J White and Leendert HJ Looijenga*

BMC Medical Genetics 2012, 13:108  doi:10.1186/1471-2350-13-108