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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Hoofdauteurs: Ga Hye Kim (Auteur), Jaewon Kim (Auteur), Jaewoong Lee (Auteur), Dae-Hyun Jang (Auteur)
Formaat: Boek
Gepubliceerd in: Frontiers Media S.A., 2023-05-01T00:00:00Z.
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