Article
Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum.
Human mutation - 1 Jan 2012
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
Abstract excerpt
Pitt-Hopkins syndrome (PTHS), characterized by severe intellectual disability and typical facial gestalt, is part of the clinical spectrum of Rett-like syndromes. TCF4, encoding a basic helix-loop-helix (bHLH) transcription factor, was identified as the disease-causing gene with de novo molecular defects. While PTHS appears to be a recognizable clinical entity, it seems to remain underdiagnosed, especially when...
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