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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7298762/
https://www.ncbi.nlm.nih.gov/pubmed/32546215
http://dx.doi.org/10.1186/s13148-020-00865-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7298762/
https://www.ncbi.nlm.nih.gov/pubmed/32546215
http://dx.doi.org/10.1186/s13148-020-00865-x

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