Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients

BACKGROUND: Silver-Russell syndrome (SRS) is characterized by growth failure and dysmorphic features. Major (epi)genetic causes of SRS are loss of methylation on chromosome 11p15 (11p15 LOM) and maternal uniparental disomy of chromosome 7 (upd(7)mat). However, IGF2, CDKN1C, HMGA2, and PLAG1 mutation...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Clin Epigenetics
Päätekijät: Inoue, Takanobu, Nakamura, Akie, Iwahashi-Odano, Megumi, Tanase-Nakao, Kanako, Matsubara, Keiko, Nishioka, Junko, Maruo, Yoshihiro, Hasegawa, Yukihiro, Suzumura, Hiroshi, Sato, Seiji, Kobayashi, Yoshiyuki, Murakami, Nobuyuki, Nakabayashi, Kazuhiko, Yamazawa, Kazuki, Fuke, Tomoko, Narumi, Satoshi, Oka, Akira, Ogata, Tsutomu, Fukami, Maki, Kagami, Masayo
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BioMed Central 2020
Aiheet:
Research
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC7298762/
https://ncbi.nlm.nih.gov/pubmed/32546215
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13148-020-00865-x
Tagit: Lisää tagi
Ei tageja, Lisää ensimmäinen tagi!

Samankaltaisia teoksia