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&...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2010-02-01
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| Series: | Italian Journal of Pediatrics |
| Online Access: | http://www.ijponline.net/content/36/1/12 |