Research Themes in KAT6A Syndrome: A Scoping Review

Research Themes in KAT6A Syndrome: A Scoping Review

Pathogenic variants in the <i>KAT6A</i> gene cause KAT6A syndrome, a neurodevelopmental disorder characterised by intellectual disability (ID), developmental delay, speech and language challenges, feeding difficulties, and skeletal abnormalities. This scoping review synthesises current k...

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Bibliographic Details
Main Authors: Tanya Tripathi, Miya St John, Jordan Wright, Natacha Esber, David J. Amor
Format: Article
Language:English
Published: MDPI AG 2025-04-01
Series:DNA
Subjects:
KAT6A syndrome
intellectual disability
syndromic disorders
speech and language challenges and phenotypic variability
Online Access:https://www.mdpi.com/2673-8856/5/2/21
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https://www.mdpi.com/2673-8856/5/2/21

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