XY sex reversal, pontocerebellar hypoplasia and intellectual disability: confirmation of a new syndrome

Siriwardena K, Al-Maawali A, Guerin A, Blaser S, Chitayat D. XY sex reversal, pontocerebellar hypoplasia and intellectual disability: confirmation of a new syndrome. Am J Med Genet A. 2013 Jul;161A(7):1714-7.