Article
Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.
Human genetics - 1 Jun 2015
Bramswig Nuria C, Lüdecke Hermann-Josef, Alanay Yasemin, Albrecht Beate, Barthelmie Alexander, Boduroglu Koray, Braunholz Diana, Caliebe Almuth, Chrzanowska Krystyna H, Czeschik Johanna Christina, Endele Sabine, Graf Elisabeth, Guillén-Navarro Encarna, Kiper Pelin Özlem Simsek, López-González Vanesa, Parenti Ilaria, Pozojevic Jelena, Utine Gulen Eda, Wieland Thomas, Kaiser Frank J, Wollnik Bernd, Strom Tim M, Wieczorek Dagmar
Abstract excerpt
Coffin-Siris syndrome (CSS) and Nicolaides-Baraitser syndrome (NCBRS) are rare intellectual disability/congenital malformation syndromes that represent distinct entities but show considerable clinical overlap. They are caused by mutations in genes encoding members of the BRG1- and BRM-associated factor (BAF) complex. However, there are a number of patients with the clinical diagnosis of CSS or NCBRS in whom the...
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