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

AIMS: 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. METHODS: The child underwent genetic (karyotype, FISH telomeres) and neuroradiological (...

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Detalles Bibliográficos
Autores principales: Taddeucci, Grazia, Bonuccelli, Alice, Mantellassi, Ilaria, Orsini, Alessandro, Tarantino, Enrico
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2010
Materias:
Letter to the Editor
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2827426/
https://www.ncbi.nlm.nih.gov/pubmed/20205897
http://dx.doi.org/10.1186/1824-7288-36-12

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2827426/
https://www.ncbi.nlm.nih.gov/pubmed/20205897
http://dx.doi.org/10.1186/1824-7288-36-12

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