Beckwith-Wiedemann syndrome (BWS), a human genomic imprinting disorder, is
characterized by phenotypic variability that might include overgrowth, macroglossia …

Classical galactosemia (CG) is an inborn error of galactose metabolism. Evidence-based
guidelines for the treatment and follow-up of CG are currently lacking, and treatment and …

Abstract Beckwith–Wiedemann syndrome (BWS), a human genomic imprinting disorder, is
characterized by phenotypic variability that might include overgrowth, macroglossia …

Obesity has become a major worldwide challenge to public health, owing to an interaction
between the Western 'obesogenic'environment and a strong genetic contribution. Recent …

Background Muscle biopsy is the gold standard for diagnosis of mitochondrial disorders
because of the lack of sensitive biomarkers in serum. Fibroblast growth factor 21 (FGF-21) is …

Developmental and epileptic encephalopathy (DEE) is a group of conditions characterized
by the co-occurrence of epilepsy and intellectual disability (ID), typically with developmental …

Background: Recurrent 15q13. 3 microdeletions were recently identified with identical
proximal (BP4) and distal (BP5) breakpoints and associated with mild to moderate mental …

Coats plus is a highly pleiotropic disorder particularly affecting the eye, brain, bone and
gastrointestinal tract. Here, we show that Coats plus results from mutations in CTC1 …

Background Dystonia is a clinically and genetically heterogeneous condition that occurs in
isolation (isolated dystonia), in combination with other movement disorders (combined …

Objectives: The study was focused on leukoencephalopathies of unknown cause in order to
define a novel, homogeneous phenotype suggestive of a common genetic defect, based on …