The trisomy 18 syndrome, also known as Edwards syndrome, is a common chromosomal
disorder due to the presence of an extra chromosome 18, either full, mosaic trisomy, or partial …

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 …

Background With the increasing number of genomic sequencing studies, hundreds of genes
have been implicated in neurodevelopmental disorders (NDDs). The rate of gene discovery …

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 …

Cornelia de Lange syndrome ( CdLS ) and KBG syndrome are two distinct developmental
pathologies sharing common features such as intellectual disability, psychomotor delay, and …

Cornelia de Lange syndrome (CdLS) is a rare, multiple congenital anomaly/mental retardation
syndrome characterized by clinical variability and caused by mutations in the NIPBL (50–…

Marked by incomplete division of the embryonic forebrain, holoprosencephaly is one of the
most common human developmental disorders. Despite decades of phenotype-driven …

Objective To evaluate the performance of a diagnostic protocol for neonatal/infantile
cholestasis in which the main clinical patterns steered the early use of different genetic testing …

We describe a 6-year-old boy carrying a de novo 5Mb interstitial deletion of chromosome
8p23.1 identified by means of oligonucleotide array comparative genomic hybridisation (array …

Background Postzygotic activating PIK3CA variants cause several phenotypes within the
PIK3CA-related overgrowth spectrum (PROS). Variant strength, mosaicism level, specific tissue …