… Beckwith–Wiedemann syndrome (BWS) is caused by defects in a group of imprinted
genes in 11p15.5. Different types of genetic/epigenetic alterations can affect this fine-tuned …

… (Epi)genotype-phenotype correlation studies indicate that BWS patients with CDKN1C
mutations have a higher rate of severe abdominal wall defects, notably exomphalos, but lower …

… To strengthen this genotype−phenotype correlation, it is … growth-retardation syndrome (eg,
Silver–Russell syndrome) since … of the clinical phenotypes resulted from (epi)genetic defects …

… An epigenotype-phenotype correlation could be delineated for some symptoms, such as …
LQTS on the basis of an ECG performed after an episode of chest pain. The patient’s mother did …

… , which can complicate genotype–phenotype correlations. In two of … It is likely that these
theories extend to other (epi)genotype … in each of the BWSp epigenotype subgroups to allow for …

… Records of patients with suspected Beckwith Wiedemann syndrome reporting to the genetic
… the phenotypic findings in this cohort and to establish any genotype phenotype correlation. …

… We describe a case of Beckwith-Wiedemann syndrome (BWS) demonstrating pre- and
post-natal intra-familial variability. Our first encounter with the family occurred in the 1990s …

… Interestingly, all these alterations cause the similar BWSp phenotype, but (epi)genotype-phenotype
correlations can be observed (for review [Citation2]:. Upd(11)pat is a frequent …

… molecular defects of Beckwith-Wiedemann syndrome or Silver-Russell syndrome (BWS, …
and to get an overview on rare and/or neglected (epi)mutations, we analysed the results from or …

… hurdle for genotype–phenotype correlation within BWS. … We also demonstrated epigenotype
mosaicism, where 11p15 … disorders, including Beckwith–Wiedemann syndrome (BWS), …