Novel WAC gene variant identified in the first documented case of DeSanto-Shinawi Syndrome in India

Novel WAC gene variant identified in the first documented case of DeSanto-Shinawi Syndrome in India

Abstract Background DeSanto-Shinawi Syndrome (DESSH) is a rare neurodevelopmental disorder characterized by intellectual disability, behavioral abnormalities, and distinctive dysmorphic features, linked to likely pathogenic/pathogenic variants in the WAC gene. We report the first documented case of...

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Bibliographic Details
Main Authors: Aradhana Dwivedi, Lakshita Chauhan, Pramod Kumar, Aashna Nanda, V. Y. Jayakrishnan
Format: Article
Language:English
Published: SpringerOpen 2025-05-01
Series:Molecular and Cellular Pediatrics
Subjects:
Monoallelic
Macroglossia
Neurodevelopmental
Genotype
WAC
In-silico analysis
Online Access:https://doi.org/10.1186/s40348-025-00193-1
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https://doi.org/10.1186/s40348-025-00193-1

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