… epi)genetic changes involving growth-regulating genes with good genotype-phenotype
correlation… newborn screening of a girl with Beckwith Wiedemann syndrome, probably due to a …

… Large/abnormal offspring syndrome (LOS/AOS) and BeckwithWiedemann syndrome (BWS)
are similar congenital overgrowth syndromes which occur naturally in ruminants and humans…

… and phenotypic complexity of this disease, we hypothesized a differentiating DNA methylation
epi-… phenotypes, as well as other genetic conditions with recognized DNA methylation …

… –Russell syndrome and Beckwith–Wiedemann syndrome are … an increasing range of (epi)genetic
changes, particularly in … Beckwith–Wiedemann syndrome (BWS) and Silver–Russell …

… Trans molecular interactions between imprinted genes located on 11p15 (variants of which
are associated with Beckwith–Wiedemann syndrome and Silver–Russell syndrome), 14q32 (…

… Beckwith–Wiedemann syndrome (BWS) can be associated with embryonal tumours and
congenital hyperinsulinism (CHI). We present an infant with BWS who developed congenital …

… Specific phenotype-epigenotype correlations have been reported and recurrence risk
estimation is guided by the molecular etiology [5]. Brains malformations were occasionally reported…

… Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth and cancer predisposition
disorder caused by (epi)genetic changes on chromosome 11p15 1–3 that presents with …

… Beckwith-Wiedemann syndrome, Silver-Russell syndrome… phenotype of Angelman syndrome
has been reported with MLID. Generally, there are no epigenotype–phenotype correlations …

… syndrome, and case RSTS222, with a strong clinical phenotype of Rubinstein-Taybi syndrome…
analysis but matched the defined Kabuki syndrome and RSTS episignatures, respectively. …