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

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About: Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature Goto Sponge NotDistinct Permalink

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Author	Bruel, Ange-Line (1989-....) Creuzot-Garcher, Catherine Thévenon, Julien (19..-.... ; médecin) Olivier-Faivre, Laurence (1957-....) Thauvin-Robinet, Christel (1975-....) Rivière, Jean-Baptiste (19..-.... ; biologiste) Kuentz, Paul (1982-....) Djebbar El Chehadeh, Salima (1980-....)
Bibliographic Citation	ThevenonJulien, KuentzPaul, BruelAnge-Line, Thauvin-RobinetChristel, BensignorC, RivièreJean-Baptiste, DuffourdYannis, Creuzot GarcherCatherine, FaivreLaurence . Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature . European Journal of Human Genetics, 2016, 25 (1), pp.43-51 . ⟨10.1038/ejhg.2016.133⟩
Title	Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature
dc:date	2016
Digital Object Identifier (DOI)	10.1038/ejhg.2016.133

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