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

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

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 a...

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Main Authors: Agnieszka Pawelak, Artur Polczyk, Ewelina Wolańska, Magdalena Kłaniewska, Mateusz Biela, Aleksander Basiak, Maria Franaszczyk, Małgorzata Rydzanicz, Rafał Płoski, Robert Śmigiel
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-11-01
Series:Frontiers in Pediatrics
Subjects:
TRPM3
intellectual disability
neurodevelopment
autism spectrum disorder
de novo variants
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2024.1435053/full
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https://www.frontiersin.org/articles/10.3389/fped.2024.1435053/full

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