Cornelia de Lange syndrome (CdLS) is an archetypical genetic syndrome that is characterized
by intellectual disability, well-defined facial features, upper limb anomalies and atypical …

Cornelia de Lange syndrome (CdLS) is a multisystem genetic disorder with distinct facies,
growth failure, intellectual disability, distal limb anomalies, gastrointestinal and neurological …

SMC1A encodes one of the proteins of the cohesin complex. SMC1A variants are known to
cause a phenotype resembling Cornelia de Lange syndrome (CdLS). Exome sequencing …

Background Duchenne muscular dystrophy is a genetic disease characterized by gradual
loss of motor function, respiratory failure and cardiomyopathy. During the time of the global …

Cornelia de Lange syndrome (CdLS) is a multisystem congenital anomaly disorder characterized
by prenatal and postnatal growth retardation, developmental delay, distinctive facial …

Purpose Haploinsufficiency of USP7, located at chromosome 16p13.2, has recently been
reported in seven individuals with neurodevelopmental phenotypes, including developmental …

Background Arthrogryposis multiplex congenita is an etiopathogenetically heterogeneous
disorder characterised by non-progressive multiple intra-articular contractures, which can be …

Deficiency of β-1,4 mannosyltransferase (MT-1) congenital disorder of glycosylation (CDG),
due to ALG1 gene mutations. Features in 9 patients reported previously consisted of …

Cornelia de Lange syndrome ( CdLS ) is a clinically heterogeneous disorder characterized
by typical facial dysmorphism, cognitive impairment and multiple congenital anomalies. …

Noonan syndrome (NS, OMIM 163950) is a common (1: 1,000–2,500 newborns) inherited
developmental disorder that in majority of cases presents with dysmorphic facial features …