Article
Bone mass in Rett syndrome: association with clinical parameters and MECP2 mutations.
Pediatric research - 1 Nov 2010
Shapiro Jay R, Bibat Genila, Hiremath Girish, Blue Mary E, Hundalani Shilpa, Yablonski Theodore, Kantipuly Aditi, Rohde Charles, Johnston Michael, Naidu Sakkubai
Abstract excerpt
Rett syndrome (RTT) is an X-linked neurodevelopmental disorder caused by mutations in the MECP2 gene. In 49 female RTT children, aged 1.9-17 y, bone mass was assessed and correlated with clinical parameters and mutations involving the MECP2 gene. We also studied five adult females, aged 20-33 y, and one male child, aged 6 y. Lumbar spine bone mineral content (BMC) and bone mineral density (BMD) were correlated...
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