Progressive microcephaly, spasticity and development delay: Novel SLC1A4 variants in two Portuguese families and literature review
Summary (English version): Neurodevelopmental childhood disorders present a wide spectrum of non-specific early onset abnormalities. The establishment of a molecular diagnosis is often challenging due to the complex pathophysiological networks involved. In this article, we made a review of the liter...
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| Format: | Others |
| Language: | English |
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2021
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| Online Access: | https://hdl.handle.net/10216/128872 |