Trio‐WES reveals a novel de novo missense mutation of KMT2A in a Chinese patient with Wiedemann‐Steiner syndrome: A case report

BACKGROUND: Wiedemann‐Steiner Syndrome (WSS) is an autosomal dominant genetic condition caused by mutations in the KMT2A gene. Lysine methyltransferase, encoded by KMT2A, plays critical roles in the regulation of gene expression during early development. METHODS: Trio‐based whole exome sequencing (T...

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Detalles Bibliográficos
Autores principales: Wang, Xiong, Zhang, Guijiao, Lu, Yanjun, Luo, Xiaoping, Wu, Wei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7963408/
https://www.ncbi.nlm.nih.gov/pubmed/33325147
http://dx.doi.org/10.1002/mgg3.1533

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7963408/
https://www.ncbi.nlm.nih.gov/pubmed/33325147
http://dx.doi.org/10.1002/mgg3.1533

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