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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, ...
Whole exome sequencing reveals novel candidate gene variants for MODY
(Elsevier, 2020)
Maturity-onset diabetes of the young (MODY) is a monogenic subtype of diabetes mellitus. Although 14 genes were associated to different subtypes of MODY, 30-40% of MODY patients have unidentified genetic mutations. In this ...