Cargando…
Silver-Russell syndrome: genetic basis and molecular genetic testing
Imprinted genes with a parent-of-origin specific expression are involved in various aspects of growth that are rooted in the prenatal period. Therefore it is predictable that many of the so far known congenital imprinting disorders (IDs) are clinically characterised by growth disturbances. A noteabl...
Autores principales: | Eggermann, Thomas, Begemann, Matthias, Binder, Gerhard, Spengler, Sabrina |
---|---|
Formato: | Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2010
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2907323/ https://www.ncbi.nlm.nih.gov/pubmed/20573229 http://dx.doi.org/10.1186/1750-1172-5-19 |
Ejemplares similares
-
Uncovering common pathogenic transcriptional dysregulations in Silver-Russell syndrome
por: Bohne, Florian, et al.
Publicado: (2014) -
Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome: what has to be considered and why it is important
por: Eggermann, Thomas, et al.
Publicado: (2020) -
EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver–Russell and Beckwith–Wiedemann syndrome
por: Eggermann, Katja, et al.
Publicado: (2016) -
Novel mutation points to a hot spot in CDKN1C causing Silver–Russell syndrome
por: Binder, Gerhard, et al.
Publicado: (2020) -
Examinations of maternal uniparental disomy and epimutations for chromosomes 6, 14, 16 and 20 in Silver-Russell syndrome-like phenotypes
por: Sachwitz, Jana, et al.
Publicado: (2016)