Stickler syndrome is an autosomal dominant connective tissue disorder caused by
mutations in different collagen genes. The aim of our study was to define more precisely the …

Kenny-Caffey syndrome (KCS) and the similar but more severe osteocraniostenosis (OCS)
are genetic conditions characterized by impaired skeletal development with small and dense …

Objectives: Collection and assessment of data from the Emilia-Romagna Region on the
occurrence of congenital heart defects in order to identify an homogeneous group of patients for …

Rubinstein‐Taybi syndrome ( RSTS ) is a rare congenital neurodevelopmental disorder
characterized by postnatal growth deficiency, skeletal abnormalities, dysmorphic features and …

Tricho-rhino-phalangeal syndrome (TRPS) is characterized by craniofacial and skeletal
abnormalities, and subdivided in TRPS I, caused by mutations in TRPS1, and TRPS II, caused …

The genetic basis of Rubinstein–Taybi syndrome ( RSTS ), a rare, sporadic, clinically
heterogeneous disorder characterized by cognitive impairment and a wide spectrum of multiple …

The parent of origin-dependent expression of the IGF2 and H19 genes is controlled by the
imprinting centre 1 (IC1) consisting in a methylation-sensitive chromatin insulator. Deletions …

Cornelia de Lange syndrome (CdLS), Rubinstein–Taybi syndrome (RSTS), and KBG syndrome
are three distinct developmental human disorders. Variants in seven genes belonging to …

Pitt‐Hopkins syndrome (PTHS) is characterized by severe intellectual disability, typical facial
gestalt and additional features, such as breathing anomalies. Following the discovery of the …

Background The Pierre Robin Sequence features were first described by Robin in 1923 and
include micrognathia, glossoptosis and respiratory distress with an incidence estimated as 1…