2024
DOI: 10.3390/jcm13082223
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Clinical and Genetic Correlation in Neurocristopathies: Bridging a Precision Medicine Gap

Despoina Chatzi,
Stella Aikaterini Kyriakoudi,
Iasonas Dermitzakis
et al.

Abstract: Neurocristopathies (NCPs) encompass a spectrum of disorders arising from issues during the formation and migration of neural crest cells (NCCs). NCCs undergo epithelial–mesenchymal transition (EMT) and upon key developmental gene deregulation, fetuses and neonates are prone to exhibit diverse manifestations depending on the affected area. These conditions are generally rare and often have a genetic basis, with many following Mendelian inheritance patterns, thus making them perfect candidates for precision medi… Show more

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