Journal article

Clinician's guide to genes associated with Rett-like phenotypes-Investigation of a Danish cohort and review of the literature

B Schonewolf-Greulich, A-M Bisgaard, RS Moller, M Duno, K Brondum-Nielsen, S Kaur, NJ Van Bergen, S Lunke, S Eggers, C Jespersgaard, J Christodoulou, Z Tumer

CLINICAL GENETICS | WILEY | Published : 2019


The differential diagnostics in Rett syndrome has evolved with the development of next generation sequencing-based techniques and many patients have been diagnosed with other syndromes or variants in newly described genes where the associated phenotype(s) is yet to be fully explored. The term Rett-like refers to phenotypes with distinct overlapping features of Rett syndrome where the clinical criteria are not completely fulfilled. In this study we have combined a review of Rett-like disorders with data from a Danish cohort of 35 patients with Rett-like phenotypes emphasizing the diagnostic overlap with Pitt-Hopkins syndrome, Cornelia de Lange syndrome with SMC1A variants, and epileptic encep..

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