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A novel pathogenic variant of DNMT3A associated with craniosynostosis: a case report of Heyn–Sproul–Jackson syndrome

Pathogenic variants of DNMT3A have been implicated in Tatton-Brown-Rahman syndrome, an overgrowth disorder with macrocephaly and intellectual disability. However, there are recent reports of variants in the same gene giving rise to an opposing clinical phenotype presenting with microcephaly, growth...

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Detalles Bibliográficos
Autores principales: Kim, Ga Hye, Kim, Jaewon, Lee, Jaewoong, Jang, Dae-Hyun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10248406/
https://www.ncbi.nlm.nih.gov/pubmed/37303757
http://dx.doi.org/10.3389/fped.2023.1165638