Brain MRI findings in mandibulofacial dysostosis caused by EFTUD2 haploinsufficiency: a case report with polymicrogyria and dysmorphic caudate nuclei.
| Autor: | Sá Silva J; Departments of Neuroradiology., Alves JE; Departments of Neuroradiology., Azevedo Soares C; Medical Genetics, Centro Hospitalar Universitário do Porto.; Unit for Multidisciplinary Research in Biomedicine, Instituto de Ciências Biomédicas Abel Salazar/Universidade do Porto., Tkachenko N; Medical Genetics, Centro Hospitalar Universitário do Porto., Garrido C; Department of Neuropediatrics, Centro Hospitalar Universitário do Porto, Porto, Portugal. |
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| Jazyk: | angličtina |
| Zdroj: | Clinical dysmorphology [Clin Dysmorphol] 2022 Jan 01; Vol. 31 (1), pp. 50-53. |
| DOI: | 10.1097/MCD.0000000000000398 |
| Databáze: | MEDLINE |
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