Article
De novo TRPM3 missense variant associated with neurodevelopmental delay and manifestations of cerebral palsy.
Cold Spring Harbor molecular case studies - 1 Dec 2023
Sundaramurthi Jagadish Chandrabose, Bagley Anita M, Blau Hannah, Carmody Leigh, Crandall Amy, Danis Daniel, Gargano Michael A, Gustafson Anxhela Gjyshi, Raney Ellen M, Shingle Mallory, Davids Jon R, Robinson Peter N
Abstract excerpt
We identified a de novo heterozygous transient receptor potential cation channel subfamily M (melastatin) member 3 (TRPM3) missense variant, p.(Asn1126Asp), in a patient with developmental delay and manifestations of cerebral palsy (CP) using phenotype-driven prioritization analysis of whole-genome sequencing data with Exomiser. The variant is localized in the functionally important ion transport domain of the...
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