Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum-Reference-Cited by-同舟云学术

Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum

Published:2011-11-23 Issue:1 Volume:33 Page:64-72
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Whalen Sandra,Héron Delphine,Gaillon Thierry,Moldovan Oana,Rossi Massimiliano,Devillard Françoise,Giuliano Fabienne,Soares Gabriela,Mathieu-Dramard Michelle,Afenjar Alexandra,Charles Perrine,Mignot Cyril,Burglen Lydie,Van Maldergem Lionel,Piard Juliette,Aftimos Salim,Mancini Grazia,Dias Patricia,Philip Nicole,Goldenberg Alice,Le Merrer Martine,Rio Marlène,Josifova Dragana,Van Hagen Johanna Maria,Lacombe Didier,Edery Patrick,Dupuis-Girod Sophie,Putoux Audrey,Sanlaville Damien,Fischer Richard,Drévillon Loïc,Briand-Suleau Audrey,Metay Corinne,Goossens Michel,Amiel Jeanne,Jacquette Aurelia,Giurgea Irina

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.21639/fullpdf

Reference35 articles.

1. Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction;Amiel;Am J Hum Genet,2007

2. Deletion 18q21.2q21.32 involving TCF4 in a boy diagnosed by CGH-array;Andrieux;Eur J Med Genet,2008

3. The E2A gene product contains two separable and functionally distinct transcription activation domains;Aronheim;Proc Natl Acad Sci USA,1993

4. A natural classification of the basic helix-loop-helix class of transcription factors;Atchley;Proc Natl Acad Sci USA,1997

5. Neurologic and ocular phenotype in Pitt-Hopkins syndrome and a zebrafish model;Brockschmidt;Hum Genet,2011

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