Three de novo variants in KMT2A (MLL) identified by whole exome sequencing in patients with Wiedemann–Steiner syndrome

BACKGROUND: Wiedemann–Steiner syndrome (WSS) is an autosomal dominant disorder characterized by short stature, hypertrichosis, intellectual disability, developmental delay, along with facial dysmorphism. WSS patients exhibit great phenotypic heterogeneities. Some variants in KMT2A (MLL) gene have be...

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Detalles Bibliográficos
Autores principales: Luo, Sukun, Bi, Bo, Zhang, Wenqian, Zhou, Rui, Chen, Wei, Zhao, Peiwei, Huang, Yufeng, Yuan, Li, He, Xuelian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8580087/
https://www.ncbi.nlm.nih.gov/pubmed/34469078
http://dx.doi.org/10.1002/mgg3.1798

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8580087/
https://www.ncbi.nlm.nih.gov/pubmed/34469078
http://dx.doi.org/10.1002/mgg3.1798

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