Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes

Author:

Parenti Ilaria,Teresa-Rodrigo María E.,Pozojevic Jelena,Ruiz Gil Sara,Bader Ingrid,Braunholz Diana,Bramswig Nuria C.,Gervasini Cristina,Larizza Lidia,Pfeiffer Lutz,Ozkinay Ferda,Ramos Feliciano,Reiz Benedikt,Rittinger Olaf,Strom Tim M.,Watrin Erwan,Wendt Kerstin,Wieczorek Dagmar,Wollnik Bernd,Baquero-Montoya Carolina,Pié Juan,Deardorff Matthew A.,Gillessen-Kaesbach Gabriele,Kaiser Frank J.

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Reference40 articles.

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2. Bramswig NC, Lüdecke HJ, Alanay Y, Albrecht B, Barthelmie A, Boduroglu K, Braunholz D, Caliebe A, Chrzanowska KH, Czeschik JC, Endele S, Graf E, Guillén-Navarro E, Kiper PÖ, López-González V, Parenti I, Pozojevic J, Utine GE, Wieland T, Kaiser FJ, Wollnik B, Strom TM, Wieczorek D (2015) Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes. Hum Genet 134(6):553–568. doi: 10.1007/s00439-015-1535-8

3. Braunholz D, Obieglo C, Parenti I, Pozojevic J, Eckhold J, Reiz B, Braenne I, Wendt KS, Watrin E, Vodopiutz J, Rieder H, Gillessen-Kaesbach G, Kaiser FJ (2015) Hidden mutations in Cornelia de Lange syndrome limitations of Sanger sequencing in molecular diagnostics. Hum Mutat 36(1):26–29. doi: 10.1002/humu.22685

4. Castronovo P, Gervasini C, Cereda A, Masciadri M, Milani D, Russo S, Selicorni A, Larizza L (2009) Premature chromatid separation is not a useful diagnostic marker for Cornelia de Lange syndrome. Chromosome Res 17(6):763–771. doi: 10.1007/s10577-009-9066-6

5. Deardorff MA, Kaur M, Yaeger D, Rampuria A, Korolev S, Pie J, Gil-Rodríguez C, Arnedo M, Loeys B, Kline AD, Wilson M, Lillquist K, Siu V, Ramos FJ, Musio A, Jackson LS, Dorsett D, Krantz ID (2007) Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominant mental retardation. Am J Hum Genet 80(3):485–494. doi: 10.1086/511888

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