Pitt-Hopkins syndrome: report of a case with a TCF4 gene mutation

• Main Authors: Orsini Alessandro (Author), Mantellassi Ilaria (Author), Bonuccelli Alice (Author), Taddeucci Grazia (Author), Tarantino Enrico (Author)
• Format: Book
• Published: BMC, 2010-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

<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&...