Genetic heterogeneity of patients with suspected Silver-Russell syndrome: genome-wide copy number analysis in 82 patients without imprinting defects

BACKGROUND: Silver-Russell syndrome (SRS) is a rare congenital disorder characterized by pre- and postnatal growth failure and dysmorphic features. Recently, pathogenic copy number variations (PCNVs) and imprinting defects other than hypomethylation of the H19-differentially methylated region (DMR)...

Descripción completa

Detalles Bibliográficos
Autores principales: Inoue, Takanobu, Nakamura, Akie, Fuke, Tomoko, Yamazawa, Kazuki, Sano, Shinichiro, Matsubara, Keiko, Mizuno, Seiji, Matsukura, Yoshika, Harashima, Chie, Hasegawa, Tatsuji, Nakajima, Hisakazu, Tsumura, Kumi, Kizaki, Zenro, Oka, Akira, Ogata, Tsutomu, Fukami, Maki, Kagami, Masayo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Short Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5433143/
https://www.ncbi.nlm.nih.gov/pubmed/28515796
http://dx.doi.org/10.1186/s13148-017-0350-6

Ejemplares similares

Ejemplares similares