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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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| Hlavní autoři: | , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
BioMed Central
2010
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2827426/ https://ncbi.nlm.nih.gov/pubmed/20205897 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1824-7288-36-12 |
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