Article
Clinical features and X-inactivation in females heterozygous for creatine transporter defect.
Clinical genetics - 1 Mar 2011
van de Kamp J M, Mancini G M S, Pouwels P J W, Betsalel O T, van Dooren S J M, de Koning I, Steenweg M E, Jakobs C, van der Knaap M S, Salomons G S
Abstract excerpt
The creatine transporter defect is an X-linked cause of mental retardation. We investigated the clinical features and pattern of X-inactivation in a Dutch cohort of eight female heterozygotes. We show that symptoms of the creatine transporter defect (mental retardation, learning difficulties, and constipation) can be present in female heterozygotes. We further show that the diagnosis in females is not...
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