Konu "8p23.1 Deletion Syndrome" için listeleme
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De novo 8p23.1 deletion in a patient with absence epilepsy
(John Libbey Eurotext, 2017)The 8p23.1 deletion syndrome is a rare multisystem disorder with high penetrance and a variable phenotypic spectrum that includes congenital heart disease (CHD), intellectual disability, behavioural problems, microcephalia, ...