Multi-locus methylation analyses reveal GNAS methylation defects in three patients with the Beckwith–Wiedemann syndrome phenotype and no molecular defects in the 11p15.5 imprinted region.

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Title: Multi-locus methylation analyses reveal GNAS methylation defects in three patients with the Beckwith–Wiedemann syndrome phenotype and no molecular defects in the 11p15.5 imprinted region.
Authors: Urakawa, Tatsuki1,2 (AUTHOR) urakawa-t@ncchd.go.jp, Kanamaru, Yuri1,3 (AUTHOR) kanamary@kuhp.kyoto-u.ac.jp, Amano, Naoko4 (AUTHOR) naokoam@keio.jp, Uchida, Akira5 (AUTHOR) qq6b4sp9k@yahoo.co.jp, Fukami, Maki1,6 (AUTHOR) fukami-m@ncchd.go.jp, Kagami, Masayo1 (AUTHOR) kagami-ms@ncchd.go.jp
Source: Clinical Epigenetics. 6/9/2025, Vol. 17 Issue 1, p1-13. 13p.
Database: Academic Search Ultimate
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ISSN:18687075
DOI:10.1186/s13148-025-01907-y