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Article

Further delineation of Pitt–Hopkins syndrome: phenotypic and genotypic description of 16 novel patients

26 Aug 2008

Abstract excerpt

BACKGROUND: Haploinsufficiency of the gene encoding for transcription factor 4 (TCF4) was recently identified as the underlying cause of Pitt-Hopkins syndrome (PTHS), an underdiagnosed mental-retardation syndrome characterised by a distinct facial gestalt, breathing anomalies and severe mental retardation. METHODS: TCF4 mutational analysis was performed in 117 patients with PTHS-like features. RESULTS: In total,...

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Identifiers

PMID: 18728071
DOI: 10.1136/jmg.2008.060129

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Further delineation of Pitt–Hopkins syndrome: phenotypic and genotypic description of 16 novel patientsPMID 18728071Read ↗

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