Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive

BACKGROUND: Genes implicated in the Golgi and endosomal trafficking machinery are crucial for brain development, and mutations in them are particularly associated with postnatal microcephaly (POM). METHODS: Exome sequencing was performed in three affected individuals from two unrelated consanguineou...

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Detalles Bibliográficos
Autores principales: Vogt, Guido, Verheyen, Sarah, Schwartzmann, Sarina, Ehmke, Nadja, Potratz, Cornelia, Schwerin-Nagel, Anette, Plecko, Barbara, Holtgrewe, Manuel, Seelow, Dominik, Blatterer, Jasmin, Speicher, Michael R, Kornak, Uwe, Horn, Denise, Mundlos, Stefan, Fischer-Zirnsak, Björn, Boschann, Felix
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2022
Materias:
Neurogenetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9252857/
https://www.ncbi.nlm.nih.gov/pubmed/34379057
http://dx.doi.org/10.1136/jmedgenet-2021-107843

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