Abstract Classic Ehlers-Danlos syndrome is a heritable connective tissue disorder
characterized by skin hyperextensibility, fragile and soft skin, delayed wound healing with …

Autism Spectrum Disorder (ASD) and Joint Hypermobility-Related Disorders are blanket
terms for two etiologically and clinically heterogeneous groups of pathologies that usually …

Periventricular heterotopia (PH) is a disorder characterized by neuronal nodules, ectopically
positioned along the lateral ventricles of the cerebral cortex. Mutations in either of two …

Abstract The term “Ehlers-Danlos syndrome”(EDS) groups together an increasing number of
heritable connective tissue disorders mainly featuring joint hypermobility and related …

Background: Periventricular heterotopia (PH) is an etiologically heterogeneous disorder
characterized by nodules of neurons ectopically placed along the lateral ventricles. Most …

Mutations conferring loss of function at the FLNA (encoding filamin A) locus lead to X-linked
periventricular nodular heterotopia (XL-PH), with seizures constituting the most common …

Pituitary thyroid-stimulating hormone (TSH) regulates thyroid hormone synthesis via
receptors (TSH-R) expressed on thyroid epithelial cells. As the hair follicle (HF) is uniquely …

The X‐linked filaminopathies represent a diverse group of clinical conditions, all caused by
variants in the gene FLNA. FLNA encodes the widely expressed actin binding protein …

Periventricular heterotopias is a malformation of cortical development, characterized by
ectopic neuronal nodules around ventricle lining and caused by an initial migration defect …

Background Periventricular nodular heterotopia (PVNH) is a neuronal migration disorder
caused by the inability of neurons to move to the cortex. Patients with PVNH often …