Impact of genetic test interpretation on a VPS13B missense variant in Cohen syndrome

Impact of genetic test interpretation on a VPS13B missense variant in Cohen syndrome

IntroductionCohen syndrome (CS) is an early-onset pediatric neurodevelopmental disorder characterized by postnatal microcephaly and intellectual disability. An accurate diagnosis for individuals with CS is crucial, particularly for their caretakers and future prospects. CS is predominantly caused by...

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Main Authors: Gudrun Schottmann, Carmen Martínez Almudéver, Julia C. M. Knop, Eun Kyung Suk, Zianka Meyer, Jürgen Kohlhase, Nastassja Himmelreich, Jirko Kühnisch, Claus-Eric Ott, Wenke Seifert
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-12-01
Series:Frontiers in Neuroscience
Subjects:
VPS13B
Cohen syndrome
missense variant
functional testing
Golgi complex
Online Access:https://www.frontiersin.org/articles/10.3389/fnins.2024.1488133/full
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https://www.frontiersin.org/articles/10.3389/fnins.2024.1488133/full

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