Further evidence of biallelic NAV3 variants associated with recessive neurodevelopmental disorder with dysmorphism, developmental delay, intellectual disability, and behavioral abnormalities

Neuron navigators (NAVs) are cytoskeleton-associated proteins well known for their role in axonal guidance, neuronal migration, and neurite growth necessary for neurodevelopment. Neuron navigator 3 (NAV3) is one of the three NAV proteins highly expressed in the embryonic and adult brain. However, th...

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Veröffentlicht in:Human genetics 2025, Vol.144 (1), p.55-65
Hauptverfasser: Kakar, Naseebullah, Mascarenhas, Selinda, Ali, Asmat, Azmatullah, Ijlal Haider, Syed M., Badiger, Vaishnavi Ashok, Ghofrani, Mobina Shadman, Kruse, Nathalie, Hashmi, Sohana Nadeem, Pozojevic, Jelena, Balachandran, Saranya, Toft, Mathias, Malik, Sajid, Händler, Kristian, Fatima, Ambrin, Iqbal, Zafar, Shukla, Anju, Spielmann, Malte, Radhakrishnan, Periyasamy
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Sprache:eng
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