2019
DOI: 10.1101/568451
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Perinatal features of Prader-Willi syndrome: a Chinese cohort

Abstract: Background: Prader-Willi syndrome (PWS) is a rare complex genetic disorder caused by an absence of expression of imprinted genes on the paternally derived chromosome 15q11-q13 region.This study aimed to characterize the perinatal features in a cohort of Chinese individuals with PWS.Methods: We analyzed anonymous data of 134 patients from the PWS Registry in China. Perinatal and neonatal presentations were analyzed, and compared between the two PWS genetic subtypes.We also compared the perinatal features of PWS… Show more

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