The process of variant identification by molecular technologies, through sequencing or array-based methods, is a complex process that requires protocols, quality controls, and technical and clinical knowledge. The complexity of the process does...

Pain is a very complex subject in biology. As a vital phenomenon, pain must have arisen very early in evolution, since life, in order to defend itself, had to develop among its first capacities the ability to avoid nociceptive stimuli, and it i...

Allan-Herndon-Dudley syndrome (AHDS) is an X-linked neuromuscular disorder characterized by psychomotor retardation, intellectual disability, muscular hypotonia, feeding difficulties and neurological symptoms in boys.1 Diagnosis is mainly made ...

Introduction: Familial hypercholesterolemia (FH) is a disease with autosomal dominant inheritance, manifesting in homozygous (HFHo) or heterozygous (HFHe) genotypes. It is characterized by elevated plasma cholesterol concentrat...

Pitt-Hopkins syndrome (PTHS) is a rare genetic disorder characterized by a molecular variant in the TCF4 gene involved in neuronal differentiation during embryonic development. Patients with PTHS present with syndromic facies, psychomotor retar...