Pitt-Hopkins syndrome: report of a case with a TCF4 gene mutation
<p>Abstract</p> <p>Aims</p> <p>We will discuss the clinical and genetic diagnosis of a child with severe psychomotor delay, who at 3 years of age presented with paroxysms of hyperpnea-apnea and seizures unrelated to breathing anomalies.</p> <p>Methods</p&...
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Main Authors: | Orsini Alessandro (Author), Mantellassi Ilaria (Author), Bonuccelli Alice (Author), Taddeucci Grazia (Author), Tarantino Enrico (Author) |
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Format: | Book |
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BMC,
2010-02-01T00:00:00Z.
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