The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males-Reference-Cited by-同舟云学术

The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males

Published:2010-10-18 Issue:3 Volume:79 Page:225-235
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:

Author:

Germanaud D,Rossi M,Bussy G,Gérard D,Hertz-Pannier L,Blanchet P,Dollfus H,Giuliano F,Bennouna-Greene V,Sarda P,Sigaudy S,Curie A,Vincent MC,Touraine R,des Portes V

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2010.01551.x/fullpdf

Reference29 articles.

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2. Renpenning syndrome comes into focus.;Stevenson;Am J Med Genet A,2005

3. Familial sex-linked mental retardation.;Renpenning;Canad Med Assoc J,1962

4. PQBP-1, a novel polyglutamine tract-binding protein, inhibits transcription activation by Brn-2 and affects cell survival.;Waragai;Hum Mol Genet,1999

5. PQBP-1/Npw38, a nuclear protein binding to the polyglutamine tract, interacts with U5-15kD/dim1p via the carboxyl-terminal domain.;Waragai;Biochem Biophys Res Commun,2000

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