Loss-of-function variant in SPIN4 causes an X-linked overgrowth syndrome

Overgrowth syndromes can be caused by pathogenic genetic variants in epigenetic writers, such as DNA and histone methyltransferases. However, no overgrowth disorder has previously been ascribed to variants in a gene that acts primarily as an epigenetic reader. Here, we studied a male individual with...

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Detalles Bibliográficos
Autores principales: Lui, Julian C., Wagner, Jacob, Zhou, Elaine, Dong, Lijin, Barnes, Kevin M., Jee, Youn Hee, Baron, Jeffrey
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10243798/
https://www.ncbi.nlm.nih.gov/pubmed/36927955
http://dx.doi.org/10.1172/jci.insight.167074

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10243798/
https://www.ncbi.nlm.nih.gov/pubmed/36927955
http://dx.doi.org/10.1172/jci.insight.167074

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