Novel Comprehensive Diagnostic Strategy in Pitt-Hopkins Syndrome: Clinical Score and Further Delineation of the TCF4 Mutational Spectrum

S. Whalen, D. Heron, T. Gaillon, O. Moldovan, M. Rossi, F.O. Devillard, F. Giuliano, G. Soares, M. Mathieu-Dramard, A. Afenjar, P. Charles, C. Mignot, L. Burglen, L. van Maldergem, J. Piard, S. Aftimos, G. Mancini, P. Dias, N. Philip, A. GoldenbergM. Le Merrer, M. Rio, D. Josifova, J.M. van Hagen, D Lacombe, P. Edery, S. Dupuis-Girod, A. Putoux, D. Sanlaville, R. Fischer, L. Drevillon, A. Briand-Suleau, C. Metay, M. Goossens, J. Amiel, A. Jacquette, I. Giurgea

Research output: Contribution to journalArticleAcademicpeer-review

Original languageUndefined/Unknown
Pages (from-to)64-72
JournalHuman Mutation
Volume33
Issue number1
DOIs
Publication statusPublished - 2012

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