Abstract In 5‐10% of patients, neurofibromatosis type 1 (NF1) results from microdeletions
that encompass the entire NF1 gene and a variable number of flanking genes. Two recurrent …

Purpose: Treacher Collins/Franceschetti syndrome (TCS; OMIM 154500) is a disorder of
craniofacial development belonging to the heterogeneous group of mandibulofacial …

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 phenotype …

The phenotypic spectrum of GLI3 mutations includes autosomal dominant Greig
cephalopolysyndactyly syndrome (GCPS) and Pallister–Hall syndrome (PHS). PHS was first …

Renal dysfunction is increasingly recognized as a potential clinical feature of mitochondrial
cytopathies such as mitochondrial encephalomyopathy, lacticacidosis and stroke-like …

Background Asphyxiating Thoracic Dysplasia (ATD) belongs to the short rib polydactyly
group and is characterized by a narrow thorax, short long bones and trident acetabular roof …

Ciliopathies are a group of genetic multi-systemic disorders related to dysfunction of the
primary cilium, a sensory organelle present at the cell surface that regulates key signaling …

Developmental and epileptic encephalopathies (DEEs) are neurodevelopmental diseases
characterized by refractory epilepsy, distinct electroencephalographic and neuroradiological …

Abstract Nail–Patella Syndrome (NPS) is a rare autosomal dominant condition comprising
nail and skeletal anomalies. Skeletal features include dysplastic patellae and iliac horns, as …

Mutations in the KCNQ2 gene, encoding a potassium channel subunit, were reported in
patients presenting epileptic phenotypes of varying severity. Patients affected by benign …