Case Report: Expanded delineation of phenotype of TRPM3-related neurodevelopmental disorders

• Principais autores: Agnieszka Pawelak (Autor), Artur Polczyk (Autor), Ewelina Wolańska (Autor), Magdalena Kłaniewska (Autor), Mateusz Biela (Autor), Aleksander Basiak (Autor), Maria Franaszczyk (Autor), Małgorzata Rydzanicz (Autor), Rafał Płoski (Autor), Robert Śmigiel (Autor)
• Formato: Livro
• Publicado em: Frontiers Media S.A., 2024-11-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

The TRPM3 gene, part of the transient receptor potential (TRP) cation channel family, plays crucial roles in sensory perception and ion transport. Mutations in TRPM3 are linked to a range of neurological and developmental disorders. The c.2509G>A variant specifically leads to a substitution at po...