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

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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Bibliographic Details
Main Authors: Orsini Alessandro, Mantellassi Ilaria, Bonuccelli Alice, Taddeucci Grazia, Tarantino Enrico
Format: Article
Language:English
Published: BMC 2010-02-01
Series:Italian Journal of Pediatrics
Online Access:http://www.ijponline.net/content/36/1/12

Internet

http://www.ijponline.net/content/36/1/12

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