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Items: 3

Select item 53923571.

PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features

Karen J Low, Morad Ansari, Rami Abou Jamra, Angus Clarke, Salima El Chehadeh, David R FitzPatrick, Mark Greenslade, Alex Henderson, Jane Hurst, Kory Keller, Paul Kuentz, Trine Prescott, Franziska Roessler, Kaja K Selmer, Michael C Schneider, Fiona Stewart, Katrina Tatton-Brown, Julien Thevenon, Magnus D Vigeland, Julie Vogt, Marjolaine Willems, Jonathan Zonana, D D D Study, Sarah F Smithson

Eur J Hum Genet. 2017 May; 25(5): 552–559. Published online 2017 Mar 22. doi: 10.1038/ejhg.2017.27

PMCID:: PMC5392357

Abstract Article PDF–2.6M

Select item 51597682.

Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature

Salima El Chehadeh, Wilhelmina S Kerstjens-Frederikse, Julien Thevenon, Paul Kuentz, Ange-Line Bruel, Christel Thauvin-Robinet, Candace Bensignor, Hélène Dollfus, Vincent Laugel, Jean-Baptiste Rivière, Yannis Duffourd, Caroline Bonnet, Matthieu P Robert, Rodica Isaiko, Morgane Straub, Catherine Creuzot-Garcher, Patrick Calvas, Nicolas Chassaing, Bart Loeys, Edwin Reyniers, Geert Vandeweyer, Frank Kooy, Miroslava Hančárová, Marketa Havlovicová, Darina Prchalová, Zdenek Sedláček, Christian Gilissen, Rolph Pfundt, Jolien S Klein Wassink-Ruiter, Laurence Faivre

Eur J Hum Genet. 2017 Jan; 25(1): 43–51. Published online 2016 Nov 2. doi: 10.1038/ejhg.2016.133

PMCID:: PMC5159768

Abstract Article PDF–1.1M

Select item 38241293.

SCRIB and PUF60 Are Primary Drivers of the Multisystemic Phenotypes of the 8q24.3 Copy-Number Variant

Andrew Dauber, Christelle Golzio, Cécile Guenot, Francine M. Jodelka, Maria Kibaek, Susanne Kjaergaard, Bruno Leheup, Danielle Martinet, Malgorzata J.M. Nowaczyk, Jill A. Rosenfeld, Susan Zeesman, Janice Zunich, Jacques S. Beckmann, Joel N. Hirschhorn, Michelle L. Hastings, Sebastien Jacquemont, Nicholas Katsanis

Am J Hum Genet. 2013 Nov 7; 93(5): 798–811. doi: 10.1016/j.ajhg.2013.09.010