Cargando…
Case report: a typical Silver-Russell syndrome patient with hand dystonia: the valuable support of the consensus statement to the wide syndromic spectrum
The amount of Insulin Growth Factor 2 (IGF2) controls the rate of embryonal and postnatal growth. The IGF2 and adjacent H19 are the imprinted genes of the telomeric cluster in the 11p15 chromosomal region regulated by differentially methylated regions (DMRs) or imprinting centers (ICs): H19/IGF2:IG-...
Autores principales: | Vimercati, Alessandro, Tannorella, Pierpaola, Orlandini, Eleonora, Calzari, Luciano, Moro, Mirella, Guzzetti, Sara, Selicorni, Angelo, Crippa, Milena, Larizza, Lidia, Bonati, Maria Teresa, Russo, Silvia |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10387531/ https://www.ncbi.nlm.nih.gov/pubmed/37529781 http://dx.doi.org/10.3389/fgene.2023.1198821 |
Ejemplares similares
-
Maternal Uniparental Disomy of Chromosome 20 (UPD(20)mat) as Differential Diagnosis of Silver Russell Syndrome: Identification of Three New Cases
por: Tannorella, Pierpaola, et al.
Publicado: (2021) -
Molecular Etiology Disclosed by Array CGH in Patients With Silver–Russell Syndrome or Similar Phenotypes
por: Crippa, Milena, et al.
Publicado: (2019) -
Germline variants in genes of the subcortical maternal complex and Multilocus Imprinting Disturbance are associated with miscarriage/infertility or Beckwith–Wiedemann progeny
por: Tannorella, Pierpaola, et al.
Publicado: (2022) -
Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes
por: Mackay, Deborah J.G., et al.
Publicado: (2019) -
Recombinant Chromosome 7 Driven by Maternal Chromosome 7 Pericentric Inversion in a Girl with Features of Silver-Russell Syndrome
por: Catusi, Ilaria, et al.
Publicado: (2020)