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

Crossref DOI link: https://doi.org/10.1038/ejhg.2016.133

Published Online: 2016-11-02

Published Print: 2017-01

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

El Chehadeh, Salima

Kerstjens-Frederikse, Wilhelmina S

Thevenon, Julien https://orcid.org/0000-0001-9271-3961
Kuentz, Paul https://orcid.org/0000-0003-2814-6303
Bruel, Ange-Line

Thauvin-Robinet, Christel

Bensignor, Candace

Dollfus, Hélène

Laugel, Vincent

Rivière, Jean-Baptiste

Duffourd, Yannis

Bonnet, Caroline

Robert, Matthieu P

Isaiko, Rodica

Straub, Morgane

Creuzot-Garcher, Catherine

Calvas, Patrick

Chassaing, Nicolas

Loeys, Bart

Reyniers, Edwin

Vandeweyer, Geert

Kooy, Frank https://orcid.org/0000-0003-2024-0485
Hančárová, Miroslava

Havlovicová, Marketa

Prchalová, Darina

Sedláček, Zdenek

Gilissen, Christian https://orcid.org/0000-0003-1693-9699
Pfundt, Rolph

Wassink-Ruiter, Jolien S Klein

Faivre, Laurence
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Article History

Received: 13 March 2016

Revised: 28 July 2016

Accepted: 23 August 2016

First Online: 2 November 2016

Competing interests

: The authors declare no conflict of interest.